287-P Insulin secretion in patients with the hyperinsulinism/hyperammonaemia-syndrome (English)
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JOURNAL OF INHERITED METABOLIC DISEASE
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24
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145
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2001
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ISSN:
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Title:287-P Insulin secretion in patients with the hyperinsulinism/hyperammonaemia-syndrome
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Contributors:Meissner, T. ( author ) / Zelezny, R. ( author ) / Beinbrech, B. ( author ) / Schaefer, F. ( author ) / Spiekerkotter, U. ( author ) / Wendel, U. ( author ) / Santer, R. ( author ) / Mayatepek, E. ( author )
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Published in:JOURNAL OF INHERITED METABOLIC DISEASE ; 24 ; 145
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Publication date:2001-01-01
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Size:145 pages
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
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© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 24
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
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Contents| 2001
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Research article| 2001
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002-P Critical evaluation of one year of diagnostic investigations for inborn errors of metabolismCaruso, U. / Schiaffino, M. C. / Fantasia, A. R. / Minniti, G. / Migliaccio, G. / Cerone, R. et al. | 2001
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Abstracts on: Screening, Phenylketonuria and Pterins, Other Amino Acid Disorders, Organic Disorders, Fatty Acid Defects, Mitochondrial Disorders, Peroxisomal Disorders, Lysosomal Disorders, Carbohydrate Disorders and Defects in Glycosylation, Sterol Disorders, Creatine Disorders and Neurological Disorders, Oxidative Stress and Mechanisms, Other Disorders and General Topics| 2001
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ForewordAerts, Hans / Beck, Michael / Cox, Timothy et al. | 2001
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Phenylketonuria: Tyrosine beyond the phenylalanine‐restricted dietvan Spronsen, F. J. / Smit, P. G. A. / Koch, R. et al. | 2001
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001-P Incidence of inborn errors of metabolism: results of newborn screening program in North-East ItalyZaffanello, M. / Maffeis, C. / Camilot, M. / Micciolo, R. / Tato, L. et al. | 2001
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004-P Prevalence of hyperphenylalaninemia in the Iranian institutionalized developmentally delayedSeddigh, A. / Azadi, B. / Ebrahimi, M. / Ghafarizadeh, A. / Koochmeshgi, J. / Hosseini-Mazinani, S. M. et al. | 2001
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003-P Incidence of inherited metabolic disorders in the Czech RepublicStastna, S. / Kozich, V. / Zeman, J. / Hyanek, J. / Cechak, P. / Elleder, M. et al. | 2001
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An historical overview of Fabry diseaseFabry, H. et al. | 2001
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006-P Simultaneous screening for multiple organic acidurias and amino acidopathies in plasma and urine samples: method developmentYoon, H.-R. / Kim, J. / Lee, K. et al. | 2001
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005-P Phenylketonuria (PKU): thirty years of observation in St. PetersburgMaximova, S. P. / Mkheidze, M. O. et al. | 2001
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008-P Rapid underivatised tandem mass spectrometric assay of branched chain amino acids: clinical utility in acute diagnosis and management of maple syrup urine diseaseTurner, C. / Dalton, R. N. / Barnfield, P. / Bird, S. / Ramadhan, M. / Champion, M. et al. | 2001
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007-A Screening inborn errors of metabolism from dried blood spots using electrospray tandem mass spectrometryBiberoglu, G. / Hasanoglu, A. / Tumer, L. / Ezgu, F. S. / Genc, B. et al. | 2001
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Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotesPotter, M. / Hammond, J. W. / Sim, K.‐G. / Green, A. K. / Wilcken, B. et al. | 2001
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009-P Potential automation for rapid measurement of total homocysteine from a 96-well plateGillingwater, S. / Cooper, D. / Morris, M. et al. | 2001
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010-P High throughput screening of metabolic diseases of thiol amino acids by capillary electrophoresisAdam, T. / Lochman, P. / Friedecky, D. / Hlidkova, E. / Skopkova, Z. et al. | 2001
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011-P Preliminary evaluation of a kit for acylycarnitine profiling in newborn screeningJackson, M. E. / Barnhart, W. J. / Black, J. A. / Klusty, J. J. / Knopsnider, C. / Cerda, B. A. et al. | 2001
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012-P Analysis of dicarboxylic-acylcarnitines by electrospray-tandem mass spectrometry (ESI-MSMS) without derivatisation. Implications for neonatal screening and routing diagnosisManning, N. J. / Maloney, M. / Olpin, S. E. / Pollitt, R. J. / Bonham, J. R. / Heap, S. J. / Downing, M. et al. | 2001
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013-P Characterisation of plasma acylcarnitines in patients under valproate monotherapy using ESI-MS/MSSilva, M. F. / Selhorst, J. / Overmars, H. / van Gennip, A. H. / Maya, M. / de Almeida, I. T. / Wanders, R. J. / Duran, M. et al. | 2001
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014-P Diagnosis of methylmalonic aciduria (MMA) by neonatal screening using tandem mass spectrometry (MS/MS)Goyens, P. / Van Thi, H. V. / Herremans, N. / De Meirleir, L. / Gerlo, E. / De Laet, C. / Bourdoux, P. et al. | 2001
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015-P Neonatal screening experiences with biotinidase deficiency in West-HungarySchuler, A. / Somogyi, C. / Horvath, A. / Toros, I. / Puskas, K. / Kiss, E. et al. | 2001
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016-O Retrospective neonatal screening for galactosemia by quantitative analysis of hexose monophosphates using tandem mass spectrometrySimonsen, H. / Jensen, U. G. / Brandt, N. J. / Christensen, E. / Norgaard-Pedersen, B. / Skovby, F. et al. | 2001
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017-P Rapid screening method in urine for disorders in purine and pyrimidine metabolism using isocratic reversed-phase HPLC-MS/MSGoggerle, M. / Wallner, S. / Korall, H. et al. | 2001
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018-O Screening of thymidine phosphorylase deficiencyVan Gennip, A. H. / Van Lenthe, H. / Van Cruchten, A. / Bootsma, A. H. / Hirano, M. / Van Kuilenburg, A. B. et al. | 2001
- 10
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019-O Analysis of 17-OH progesterone (17OHP) by tandem mass spectrometry (MS/MS) for the detection of congenital adrenal hyperplasia (CAH) in newborn blood spotsMinutti, C. / Magera, M. J. / Casetta, B. N. / Zimmerman, D. / Rinaldo, P. / Matern, D. et al. | 2001
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020-P Prevalence of SLO syndrome in the Netherlands determined from newborn screening cardsWeel, R. E. / Romeijn, G. J. / Oostheim, W. / van Woerden, C. S. / Hennekam, R. C. / Wijburg, F. A. / Wanders, R. J. / Waterham, H. R. et al. | 2001
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022-O A DNA microarray platform applicable to high throughput population-based clinical screening: application to newborn screening for the sickle cell hemoglobinopathiesDobrowolski, S. F. / Schena, M. / Sears, R. / Banas, R. A. / Lin, Z. / Naylor, E. W. et al. | 2001
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CommentaryBrady, R. O. et al. | 2001
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021-P D-HPLC analysis as a platform for molecular diagnostics of congenital disorders of glycosylation (CDG)Matthijs, G. / Martens, K. / Schollen, E. et al. | 2001
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024-P METAGENE: knowledgebase on the internet for diagnostic support of inborn errors of metabolismFrauendienst-Egger, G. / Klier, H. / Trefz, F. K. et al. | 2001
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023-P Genetic screening for hemochromatosis in healthy blood donorsEngelmann, M. / Holten, D. / Gathof, B. et al. | 2001
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Natural history of Fabry disease in affected males and obligate carrier femalesMacDermot, K. D. / Holmes, A. / Miners, A. H. et al. | 2001
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026-P Tandem mass spectrometry using underivatised samples: a robust method for phenylketonuria screeningBird, S. / Turner, C. / Dalton, R. N. et al. | 2001
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025-P Using the probability density function to detect inborn errors of metabolismKarjalainen, E. / Karjalainen, U. et al. | 2001
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027-P Using tandem mass spectrometry to monitor blood spot phenylalanine and tyrosine in phenylketonuria patients during childhood, adulthood and pregnancyBird, S. / Saben, T. J. et al. | 2001
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028-P Tandem mass spectrometry for monitoring Phe-and Tyr-concentrations of PKU patientsScholl, S. / Janzen, N. / Sander, S. / Meder, M. / Das, A. et al. | 2001
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Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chainWittig, I. / Augstein, P. / Brown, G. K. / Fujii, T. / Rötig, A. / Rustin, P. / Munnich, A. / Seibel, P. / Thorburn, D. / Wissinger, B. et al. | 2001
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029-P The prevalence of PKU among mentally retarded school children in the East Coast of MalaysiaOmar, J. / Rawi, R. M. / Nadiger, H. A. / Rahman, R. A. / Abdullah, M. R. et al. | 2001
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030-P Phenylalanine levels between ages 2.5 and 7 predict neuropsychological outcome between ages 7 and 14 in treated phenylketonuriaHuijbregts, S. C. / de Sonneville, L. M. / Licht, R. / van Spronsen, F. J. / Sergeant, J. A. et al. | 2001
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Natural history of Fabry disease in males: preliminary observationsSchiffmann, R. et al. | 2001
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032-P Monitoring of phenylalanine in plasma of hyperphenylalaninemic mothers before and after conceptionHyanek, J. / Zeman, J. / St astna, S. / Kozich, V. / Vad urova, L. / Viletova, H. / Cervena, M. / Paterova, T. et al. | 2001
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031-O Maternal phenylektonuria (PKU): an international studyKoch, R. / Hanley, W. / Levy, H. / Matalon, R. / Rouse, B. / Trefz, F. / Guttler, F. / Azen, C. / Friedman, E. / Platt, L. et al. | 2001
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034-P Phenylketonuria: no long term frontal lobe dependent deficits of early treated patients in comparison to diabetic patientsFeldman, R. / Denecke, J. / Pietsch, M. / Grenzebach, M. / Weglage, J. et al. | 2001
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033-A A four-year observation of three boys with maternal phenylketonuria (PKU) syndromeStarostecka, E. / Lange, A. / Piotrowicz, M. / Przygocka, J. et al. | 2001
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Enzyme replacement therapy in Fabry diseaseBrady, R. O. / Murray, G. J. / Moore, D. F. / Schiffmann, R. et al. | 2001
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036-P Findings at MRI of the brain in late-treated patients with phenylketonuriaYu, W. M. / Zhou, Z. S. / Zhang, X. Z. / Wang, W. / Gao, H. / Jin, Y. Y. / He, C. et al. | 2001
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035-P Individual blood-brain barrier phenylalanine transport determins clinical outcome in phenylketonuria (PKU): investigations in siblingsWeglage, J. / Feldmann, R. / Denecke, J. / Koch, H. G. / Ullrich, K. / Moller, H. E. et al. | 2001
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037-P Executive functions impairment in early treated phenylketonuric (PKU) subjects with normal mental developmentLeuzzi, V. / Pansini, M. / Carducci, C. / Sechi, E. / Antonozzi, I. et al. | 2001
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038-P Early adiposity rebound and development of obesity in hyperphenylalaninemic childrenFiori, L. / Scaglioni, S. / Gianni, M. L. / Radaelli, G. / Rossi, S. / Fiege, B. / Lammardo, A. M. / Valenti, M. / Riva, E. et al. | 2001
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040-P Lack of effects three years after the end of supplementation with long chain polyunsaturated fatty acids (LCPUFA) in a population of hyperphenylalaninemic (HPA) childrenGianni, M. L. / Fiori, L. / Agostoni, C. / Dreon, D. / Verduci, E. / Colombo, L. / Scaglioni, S. / Giovannini, M. et al. | 2001
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039-A The effect of oral L-alanine administration to phenylketonuric patients with poor dietary compliancePires, R. F. / Wannmacher, C. M. et al. | 2001
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041-O Lipid status and long chain polyunsaturated fatty acid levels in adults and adolescents with phenylketonuria on a phenulalanine-restricted dietMoseley, K. / Koch, R. / Moser, A. B. et al. | 2001
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042-P A rationale for the importance of case studies in later treated adults diagnosed with phenylketonuria (PKU)Moseley, K. / Stern, A. et al. | 2001
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043-P B~1~2 deficiency in maternal PKU - a cause for concern?Smith, L. / Rutherford, P. / Isherwood, D. M. / Walsh, P. / Davidson, D. C. et al. | 2001
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044-P A diet with large neutral amino acids supplementation as a combined treatment for difficult to control or late diagnosed patients with PKU - preliminary dataGiewska, M. / Cyryowski, L. / Jowiak, I. / Bich, W. / Romanowska, H. / Remigolska, M. / Bilar, A. / Bartkowiak, E. / Walczak, M. et al. | 2001
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045-P Does metabolic control improve when patients with PKU are themselves responsible for dietary treatment?Bekhof, J. / van Rijn, M. / Sauer, P. J. / Smit, G. P. / Reijngoud, D.-J. / van Spronsen, F. J. et al. | 2001
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046-P How much do patients with PKU know about PKU?Durham-Shearer, S. / Lilburn, M. / Lee, P. et al. | 2001
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048-P PAH ectopic transcript analysis as a complementary method to mutation screening in PKU patientsCarducci, C. / Prudente, S. / Ellul, L. / Artiola, C. / Pierella, M. / Leuzzi, V. / Antonozzi, I. et al. | 2001
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047-A Inquisition about developmental quotient and early intervention of the late treated patients with phenylketonuriaShen, M. / Yu, W. M. et al. | 2001
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050-P Detection of four novel phenylalanine hydroxylase gene mutations in ItalyFiori, L. / Gianni, M. L. / Leviti, S. / Verduci, E. / Racchi, E. / Colombo, L. / Riva, E. et al. | 2001
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049-P Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylketonuriaGianni, M. L. / Fiori, L. / Lammardo, A. M. / Fiege, B. / Verduci, E. / Racchi, E. / Rossi, S. / Giovannini, M. et al. | 2001
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Gene therapy for Fabry diseaseSitaskas, C. / Medin, J. A. et al. | 2001
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051-P Characterisation of phenylalanine hydroxylase alleles in North-East Italy: a preliminary investigationZaffanello, M. / Camilot, M. / Maffeis, C. / Vella, F. / Tato, L. et al. | 2001
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052-P Origins for phenylketonuria in South Brazil: correlation mutation-haplotypePereira, M. L. / Silva, J. F. / Silva, L. C. / Laybauer, L. S. / Baraldo, M. P. / Pires, R. F. / Giugliani, R. et al. | 2001
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053-P Enzymatic characterization of hetero-allelic PAH mutant enzymes using a prokaryotic dual expression systemLeandro, P. / Konecki, D. / de Almeida, I. T. et al. | 2001
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054-P In search of the origin of mediterranean PKU mutationKoochmeshgi, J. / Hosseini-Mazinani, S. M. / Khazaee, Z. et al. | 2001
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Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenoneLerman‐Sagie, T. / Rustin, P. / Lev, D. / Yanoov, M. / Leshinsky‐Silver, E. / Sagie, A. / Ben‐Gal, T. / Munnich, A. et al. | 2001
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056-O A nation-wide study of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in JapanThe Japanese Collaborative Study Group of Tetrahydrobiopterin-responsive Phenylalanine Hydroxylase Deficiency / Kitagawa, T. / Aoki, K. / Kure, S. / Matsubara, Y. / Okano, Y. / Ohura, T. / Owada, M. / Sakura, N. / Shintaku, H. et al. | 2001
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055-P Different presentation of late-detected PKU in two brothers with the same R408W/R111X mutations in PAH geneGiewska, M. / Zekanowski, C. / Cyryowski, L. / Romanowska, H. / Poncyljusz, W. / Walczak, M. et al. | 2001
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057-P Tetrahydrobiopterin-responsiveness associated with common phenylalanine-hydroxylase mutations distant from the tetrahydrobiopterin binding siteSteinfeld, R. / Kohlschutter, A. / Zschocke, J. / Lindner, M. / Ullrich, K. / Lukacs, Z. et al. | 2001
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058-P A patient with phenylketonuria successfully treated with tetrahydrobiopterinNuoffer, J.-M. / Thony, B. / Romstad, A. / Blau, N. et al. | 2001
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060-P High sensitive method for the determination of pterins in CSF: a tool for the diagnosis of BH4 deficiencyCarducci, C. / Birarelli, M. / Santagata, G. / Leuzzi, V. / Costa, G. / Antonozzi, I. et al. | 2001
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059-O Tetrahydrobiopterin regulates tyrosine hydroxylase and phenylalanine hydroxylase gene expression in dominantly inherited GTP cyclohydrolase deficiencyHyland, K. / Munk-Martin, T. L. et al. | 2001
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062-P The course of pregnancy and 6-month observation of offspring from mother with late diagnosis of 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiencyGiewska, M. / Bich, W. / Cyryowski, L. / Nestorowicz, B. / Zekanowski, C. / Walknowska, E. P. E. / Jurkowska, M. et al. | 2001
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061-P Catechol-O-methyltransferase inhibitors in BH4 deficiencySpada, M. / Baglieri, S. / Battistoni, G. / Martini, A. / Ponzone, A. et al. | 2001
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064-P Ophthalmic follow up in patients with tyrosinaemia type 1 on on NTBCGissen, P. / McKiernan, P. J. / Preece, M. A. / Wilshaw, H. A. et al. | 2001
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063-O Sepiapterin reductase deficiency: a new inborn error of tetrahydrobiopterin metabolismBonafe, L. / Thony, B. / Penzien, J. M. / Czarnecki, B. / Blau, N. et al. | 2001
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065-P Cardiomyopathy in tyrosinemia type 1 is associated with a good long term outcomeArora, N. / McKiernan, P. J. / Stumper, O. / Wright, J. et al. | 2001
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066-P Selective screening for defects of tryptophan metabolismMarklova, E. / Krakorova, I. / Nozickova, M. et al. | 2001
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068-P Autistic syndrome and aromatic L-amino acid decarboxylase (AADC) deficiencyBurlina, A. B. / Burlina, A. P. / Hyland, K. / Bonafe, L. / Blau, N. et al. | 2001
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067-P Aromatic L-amino acid decarboxylase deficiencySequeira, S. / Calado, E. / Wevers et al. | 2001
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069-P Clinical variation in nonketotic hyperglycinemiaHennermann, J. B. / Barufe, J.-M. / Monch, E. et al. | 2001
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Features of carnitine palmitoyltransferase type I deficiencyOlpin, S. E. / Allen, J. / Bonham, J. R. / Clark, S. / Clayton, P. T. / Calvin, J. / Downing, M. / Ives, K. / Jones, S. / Manning, N. J. et al. | 2001
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070-P A new presentation of nonketotic hyperglycinaemia with primary pulmonary hypertension and branched chain acylglycines with fatal outcome in three familiesRiudor, E. / Arranz, J. A. / del Toro, M. / Castello, F. / Briones, P. / Ribes, A. / Roig, M. et al. | 2001
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071-P Maple syrup urine disease: mutation analysis in Turkish patientsDursun, A. / Henneke, M. / Ozgul, K. / Gartner, J. / Coskun, T. / Tokatli, A. / Kalkanoglu, S. / Demirkol, M. / Ozalp, I. / Wendel, U. et al. | 2001
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072-P Search for a founder effect in turkish MSUD patients with a novel C213Y mutation at E1alpha locusDurson, A. / Ozgul, K. / Kalkanoglu, S. / Yuzbasioglu, A. / Coskun, T. / Tokatli, A. / Ozalp, I. / Ozguc, M. et al. | 2001
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073-P A 11 bp deletion due to IVS3G→a mutation in E2 mRNA from a classical type Turkish MSUD patientDursun, A. / Ozgul, K. / Coskun, T. / Tokatli, A. / Kalkanoglu, S. / Gerceker, F. O. / Yuzbasioglu, A. / Ozalp, I. / Ozguc, M. et al. | 2001
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074-P Breastfeeding in maple syrup urine disease (MSUD)Touati, G. / Nassogne, M. C. / Depondt, E. / Assoun, M. / Dubois, S. / Rabier, D. / Saudubray, J. M. et al. | 2001
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076-A Urea cycle disorders - a report of 3 casesWasant, P. / Jirapinyo, P. / Tay, M. / Pipopmongkol, C. / Thomas, G. H. / Brusilow, S. / Liammongkolkul, S. et al. | 2001
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075-O Late-onset of urea cycle defects: clinical presentation of 96 casesNassogne, M. C. / Touati, G. / Rabier, D. / Saudubray, J. M. et al. | 2001
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078-P ^1^3C NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduriaGradowska, W. / Krawczyk, H. / Gryff-Keller, A. / Duran, M. / Pronicka, E. et al. | 2001
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077-P Intra-day variations in urinary pyrimidines in ornithine carbamoyltransferase deficiency and healthy individualsUeta, A. / Sumi, S. / Kidouchi, K. / Ito, T. / Ban, K. / Togari, H. / Wada, Y. et al. | 2001
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080-P Spectrum of mutations in argininosuccinate lyase deficiencyTschiedel, E. / Linnebank, M. / Kleijer, W. J. / Haberle, J. / Koch, H. G. et al. | 2001
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079-P The human argininosuccinate lyase gene: full-length sequence, promoter, pseudogene sequence, and a PCR-system for genomic mutation-screeningLinnebank, M. / Tschiedel, E. / Homberger, A. / Haberle, J. / Koch, H. G. et al. | 2001
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082-P Allopurionol challenge tests performed before and after living-related donor liver transplantation in citrullinemiaIto, T. / Sumi, S. / Kidouchi, K. / Ban, K. / Ueta, A. / Togari, H. / Wada, Y. et al. | 2001
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081-P Neocortical involvement on MRI in neonatal onset citrullinemiaMourmans, J. / Yilmazer, T. / Wijburg, F. A. / Geukers, V. / Majoie, C. B. / Abeling, N. G. / Duran, M. / Barth, P. G. / Poll-The, B. T. et al. | 2001
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084-P Moderately severe and symptom-free citrullinemia in one sibshipYilmazer, T. / Abeling, N. G. / Wanders, R. J. / Aalfs, C. M. / van Tinteren, H. / Bakker, H. D. et al. | 2001
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083-P Breastfeeding in a patient with neonatal onset of citrullinemiaKamper, A. / Brandauer, M. / Hattinger, E. / Mayr, J. / Sperl, W. et al. | 2001
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Genetic analysis of phytosterolaemiaTogo, M. / Toda, T. / Nguyen, L. A. / Kubota, S. / Tsukamoto, K. / Satoh, H. / Hara, M. / Iso‐o, N. / Noto, H. / Kimura, S. et al. | 2001
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085-P Structure of the argininosuccinate synthetase gene and characterization of mild citrullinemiaHaeberle, J. / Pauli, S. / Linnebank, M. / Sander, J. / Kleijer, W. J. / Bakker, H. D. / Wanders, R. J. / Koch, H. G. et al. | 2001
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086-P Argininemia - molecular prenatal diagnosisCardoso, M. L. / Silva, E. / Fortuna, A. / Martins, E. / Vilarinho, L. et al. | 2001
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088-P An atypical case of hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndromeBehulova, D. / Bzduch, V. / Skodova, J. / Fabriciova, K. / Kolnikova, M. / Ponec, J. / Hruba, E. / Shih, V. E. / Kleijer, W. J. / Kasanicka, A. et al. | 2001
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087-O Clinical and molecular characterization of HHH syndromeDionisi-Vici, C. / Salvi, S. / Bertini, E. / Burlina, A. B. / Donati, A. / Meli, C. / Rizzo, C. / Santorelli, F. M. et al. | 2001
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090-O Ophthalmological heterogeneity in gyrate atrophyPeltola, K. / Heinonen, O. J. / Nanto-Salonen, K. / Heinanen, K. / Jaaskelainen, S. / Simell, O. / Nikoskelainen, E. et al. | 2001
- 45
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089-P Is oral lysine feeding in hyperornithinaemia effective in the long term?Galogavrou, M. / Bonham, J. R. / Sharrard, M. J. et al. | 2001
- 46
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091-P LPI as the unsuspected cause of psychosis in a soldier - 2 novel mutationsAugoustides-Savvopoulou, P. / Bairaktaris, C. / Sperandeo, M. P. / Fiorito, V. / Nicolaides, N. / Andria, G. et al. | 2001
- 46
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092-P Mutations in the SLC3A1 gene in Czech cystinuric patients type ISkopkova, Z. / Hrabincova, E. / Adam, T. / Stastna, S. / Kozak, L. et al. | 2001
- 47
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093-P The effects of early treatment and biochemical control on the long-term ocular outcome of patients with cystathionine beta-synthase deficiencyYap, S. / Mulvihill, A. / O Keffe, M. / Howard, P. M. / Naughten, E. R. et al. | 2001
- 47
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Variable clinical presentation in lysosomal storage disordersBeck, M. et al. | 2001
- 47
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094-P Ocular axial lengths in cystathionine beta-synthase deficient patients with and without ocular changes: effects of treatment and controlYap, S. / Mulvihill, A. / O Keffe, M. / Howard, P. M. / Lanigan, B. / Naughten, E. R. et al. | 2001
- 48
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096-P Betaine therapy in homocystinuria - metabolic and clinical considerationsIles, R. A. / Murphy, H. C. / Bain, M. D. / Chalmers, R. A. et al. | 2001
- 48
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095-P Clinical and biochemical findings in 27 late diagnosed patients with homocystinuriaDemirkol, M. / Huner, G. / Baykal, T. / Podskarbi, T. / Shin, Y. S. / Seckin, Y. / Donmez, S. / Han, G. / Lee, B. et al. | 2001
- 49
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097-P Frequency and determinants of hyperhomocysteinaemia in women after pre-eclampsiade Valk, H. W. / Sikkema, J. M. / Franx, A. / van der Wijk, N. G. / Visser, G. H. / Bruinse, H. W. et al. | 2001
- 49
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098-O Domain analysis of cystathionine beta-synthase: definition of the minimal region required for catalysis in the absence of hemeOliveriusova, J. / Kery, V. / Kraus, J. P. et al. | 2001
- 50
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099-P Severe methylenetetrahydrofolate reductase deficiency: two novel genotypes with different clinical courseHomberger, A. / Linnebank, M. / Sewell, A. / Suormala, T. / Fowler, B. / Koch, H. G. et al. | 2001
- 50
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100-P Polymorphism of MTHFR and MTRR in Czech patients with cardiovascular disease and strokeHyanek, J. / Pejznochova, H. / Martinikova, V. / Sebesta, P. / Dvorakova, J. / Dubska, L. / Taborsky, L. / Rady, P. / Szucs, S. / Matalon, R. et al. | 2001
- 51
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Carnitine plamitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profileSim, K. G. / Wiley, V. / Carpenter, K. / Wilcken, B. et al. | 2001
- 51
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102-A Organic acidemias in Korea - 3 years experience of organic acid analysisLee, H. J. / Lee, K. J. / Park, W. I. / Kim, B. S. et al. | 2001
- 51
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Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profileSim, K. G. / Wiley, V. / Carpenter, K. / Wilcken, B. et al. | 2001
- 51
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101-P Neurological outcome in methionine synthase deficiencyRamaswami, U. / Hughes, I. / Fowler, B. / Calvin, J. et al. | 2001
- 52
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Are there useful biochemical markers of disease activity in lysosomal storage diseases?Winchester, B. et al. | 2001
- 52
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103-A Organic acids disorders with neurological manifestationMaropoulos, G. / Zaferiou, D. / Skartutsu, A. / Sulpi, K. / Katsarou, E. / Avgustidou-Savopoulou, P. / Michelakaki, E. / Evaggeliou, T. / Papadreou, O. / Drogari, E. et al. | 2001
- 52
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104-P The ERNDIM qualitative organic acid scheme: problems in rating performanceHart, C. E. / Bonham, J. R. / Downing, M. / Pollitt, R. J. et al. | 2001
- 53
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106-P Progressive visual impairment and hyperacusis in a adult patient with methylmalonic aciduria (MMA) and end-stage renal failureMeinhardt, U. / Wiessmann, U. / Baumgartner, R. / Nuoffer, J.-M. et al. | 2001
- 53
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105-P Methylmalonic aciduria: functional adult outcome is not dependent upon mutation but on presentation and treatmentBain, M. D. / Jones, M. G. / Oliviera, D. / Chalmers, R. A. et al. | 2001
- 54
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108-P Molecular studies in patients with methylmalonic aciduriaMorrone, A. / Cavicchi, C. / Bardelli, T. / Funghini, S. / Poggi, G. / Ciani, F. / Donati, M. A. / Pasquini, E. / Zammarchi, E. et al. | 2001
- 54
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107-O Successful pregnancy in maternal methylmalonic acidemiaRizzo, C. / Deodato, F. / Baiocco, F. / Boenzi, S. / Sabetta, G. / Dionisi-Vici, C. et al. | 2001
- 55
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109-P Characterization of methylmalonic aciduria and/or hyperhomocysteinemia: studies in cultured fibroblastsSuormala, S. T. / Baumgartner, E. R. / Fowler, B. et al. | 2001
- 55
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110-P Auxiliary liver transplantation for propionic acidaemiaRaiman, J. A. / Champion, M. P. / Turner, C. / Dalton, R. N. / Collins, J. E. / Hadzic, N. / Dhawan, A. / Baker, A. J. / Mieli-Vergani, G. / Heaton, N. et al. | 2001
- 56
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112-P Expression of PCCA and PCCB mutations in PCC-deficient fibroblastsPerez-Cerda, C. / Clavero, S. / Desviat, L. R. / Perez, B. / Rodriguez-Pombo, P. / Ugarte, M. et al. | 2001
- 56
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111-O Structure of the PCCA gene and identification of novel mutations in propionic acidemiaDesviat, L. R. / Campeau, E. / Leclerc, D. / Perez, B. / Ugarte, M. / Scherer, S. / Gravel, R. A. et al. | 2001
- 57
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113-P Transfection screening for defects in the PCCA and PCCB genesRodriguez-Pombo, P. / Perez-Cerda, C. / Desviat, L. R. / Perez, B. / Ugarte, M. et al. | 2001
- 57
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Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?Maire, I. et al. | 2001
- 57
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114-O 3-Methylcrotonyl-CoA carboxylase deficiency: extension of molecular analysis to patients detected by tandem MS based newborn screeningBaumgartner, M. R. / Almashanu, S. / Suormala, T. / Obie, C. / Baumgartner, E. R. / Valle, D. et al. | 2001
- 58
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116-P Divergent phenotypes in siblings with confirmed 2-methylbutyryl-CoA dehydrogenase (2-MBCD) deficiencyAkaboshi, S. / Ruiters, J. / Wanders, R. J. / Andresen, B. S. / Steiner, R. D. / Gibson, K. M. et al. | 2001
- 58
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115-P Speech delay may underlie partial biotinidase deficiencyDonati, M. A. / Gasperini, S. / Ciani, F. / Funghini, S. / Morrone, A. / Zammarchi, E. et al. | 2001
- 59
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117-P Mild cerebral white matter disease associated with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencyPoll-The, B. T. / Duran, M. / Ruiter, J. P. / Wanders, R. J. / Barth, P. G. et al. | 2001
- 59
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118-P 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 21 year old manOlpin, S. E. / Pollitt, R. J. / McMenamin, J. / Manning, N. J. / Besley, G. / Ruiter, J. P. / Wanders, R. J. et al. | 2001
- 60
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119-P 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency versus betaketothiolase (MAT) deficiencySass, J. O. / Sperl, W. et al. | 2001
- 60
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120-O 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase: purification of the enzyme, cloning of the cDNA and resolution of the molecular basis of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencyOfman, R. / Feenstra, M. / Ruiter, J. P. / Zschocke, J. / Wanders, R. J. et al. | 2001
- 60
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Survival of two patients with severe delta-aminolaevulinic acid dehydratase deficiency porphyriaGross, U. / Sassa, S. / Arndt, T. / Doss, M. O. et al. | 2001
- 60
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Survival of two patients with severe δ‐aminolaevulinic acid dehydratase deficiency porphyriaGross, U. / Sassa, S. / Arndt, T. / Doss, M. O. et al. | 2001
- 61
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122-P Two Czech patients with 3-OH-3-methylglutaric aciduriaPospisilova, E. / Hrda, J. / Mrazova, L. / Martincova, O. / Hruba, E. / Kmoch, S. / Zeman, J. et al. | 2001
- 61
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121-P Intermittent excretion of D-2-hydroxyglutaric acidWajner, M. / Vargas, C. R. / Funayama, C. / Fernandez, A. / Elias, M. L. / Goodman, S. I. / Jakobs, C. / van der Knaap, M. S. et al. | 2001
- 62
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123-P Increased incidence of 3-hydroxy-3-methylglutaric aciduria in BrazilVargas, C. R. / Wajner, M. / Giugliani, R. / Pires, R. / Funayama, C. / Grillo, E. / Gibson, K. M. et al. | 2001
- 62
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124-P The V377I mutation causing mevalonate kinase deficiency encodes a temperature-sensitive enzymeHouten, S. M. / Frenkel, J. / Rijkers, G. T. / Kuis, W. / Wanders, R. J. / Waterham, H. R. et al. | 2001
- 63
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126-P Antenatal diagnosis of succinate semialdehyde dehydrogenase (SSADH) deficiency in non-identical twinsGray, R. G. / Heath, S. K. / Aligianis, I. A. / Kilby, M. / Gibson, K. / Akaboshi, S. et al. | 2001
- 63
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125-O Identification and in vitro expression of mutant succinic semialdehyde dehydrogenase (SSADH) allelesAkaboshi, S. / Hogema, B. M. / Salomons, G. S. / Jakobs, C. / Malaspina, P. / Novelletto, A. / Grompe, M. / Gibson, K. M. et al. | 2001
- 64
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128-O Glycerol-kinase deficiency - what happens when the child grow up?Hellerud, C. / Wramner, N. / Erikson, A. / Lindstedt, S. et al. | 2001
- 64
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127-O Benzodiazepines in adult succinic semialdehyde dehydrogenase deficiency (SSDD)Gibson, K. M. / Pearl, P. / Concas, A. / Smit, L. / Jakobs, C. et al. | 2001
- 65
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129-P Clinical effect of low protein diet in alkaptonuriaMorava, E. / Kosztolanyi, G. / Wevers, R. et al. | 2001
- 65
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130-P Rapid diagnosis of mitochondrial fatty acid oxidation disorders using a combined approach involving acylcarnitine analysis followed by enzyme activity measurements in lymphocytesWanders, R. J. / Ruiter, J. P. / Lst, L. I. et al. | 2001
- 65
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Peripheral and autonomic nervous system involvement in chronic GM2‐gangliosidosisSalman, M. S. / Clarke, J. T. R. / Midroni, G. / Waxman, M. B. et al. | 2001
- 66
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Renal pathological changes in Fabry diseaseSessa, A. / Meroni, M. / Battini, G. / Maglio, A. / Brambilla, P. L. / Bertella, M. / Nebuloni, M. / Pallotti, F. / Giordano, F. / Bertagnolio, B. et al. | 2001
- 66
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132-O In vitro diagnosis of short-chain acyl-CoA dehydrogenase (SCAD) deficiencyMatern, D. / Huey, J. C. / Gregersen, N. / Rinaldo, P. / Vockley, J. et al. | 2001
- 66
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131-P Functional SCAD deficiency in a patient and his mother both with ethylmalonic aciduriaBakker, H. D. / Yilmazer, T. / Maaswinkel-Mooy, P. D. / Onkenhout, W. / Wanders, R. J. / Waterham, H. R. / Duran, M. et al. | 2001
- 67
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133-P Frequency of G985 MCAD mutation in Polish children deceased during infancyPronicka, E. / Rutkiewicz, E. / Baczynska-Szymocha, H. / Sykut-Cegielska, J. / Gradowska, W. / Pohorecka, M. / Wargulska, H. / Witt, M. / Jaruzelska, J. et al. | 2001
- 67
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134-A Gypsy origin of the first case of MCAD deficiency in Slovakia, detected by tandem mass spectrometryBzduch, V. / Lehnert, W. / Behulova, D. / Kozak, L. / Hrabincova, E. / Fabriciova, K. / Salingova, A. / Benedekova, M. et al. | 2001
- 68
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135a-P Short/branched-chain acyl-CoA dehydrogenase (SBCAD) deficiency: expanded clinical and molecular spectrumKorman, S. H. / Zeharia, A. / Barash, V. / Corydon, T. J. / Gregersen, N. / Gutman, A. / Kalderon, B. / Brooks, R. / Andresen, B. S. et al. | 2001
- 68
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135-P Medium chain acyl CoA deficiency - sudden, unexpected death in a 23 year old womanLosty, H. / Melville-Thomas, G. / Pollitt, R. / Davies, S. et al. | 2001
- 69
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135b-O Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) splice mutation IVS3-1G>C with phenotypic diversity ranging from sudden neonatal death to asymptomatic status in a Palestinian familyKorman, S. H. / Gutman, A. / Nielsen, K. B. / Gregersen, N. / Kalderon, B. / Brooks, R. / Andresen, B. S. et al. | 2001
- 69
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136-O Nonsense mediated decay (NMD) of mutant MCAD mRNA - coding region mutations may have unpredictable consequences and lead to low levels of mRNAAndresen, B. S. / Nielsen, K. B. / Schroeder, L. D. / Corydon, T. J. / Gregersen, N. et al. | 2001
- 70
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137-P Myopathic presentation in an adult woman with a very long chain acyl-coenzyme a dehydrogenase deficiencyPou-Serradell, A. / Ribes, A. Z. / Briones, P. Z. / Garavaglia, B. / Andresen, B. S. et al. | 2001
- 70
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138-P Cardiac abnormalities in 3-hyrdoxyacyl-CoA dehydrogenase (LCHAD) deficiency - report of 11 casesPohorecka, M. / Zuk, M. / Gradowska, W. / Sykut-Cegielska, J. / Kowalik, A. / Kawalec, W. / Pronicka, E. et al. | 2001
- 71
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Renal disease in Fabry patientsGrünfeld, J.‐P. / Lidove, O. / Joly, D. / Barbey, F. et al. | 2001
- 71
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139-P LCHAD deficiency treated with creatineShortland, G. J. / Schmidt, M. / Losty, H. / Leonard, J. V. et al. | 2001
- 71
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140-P The neuropathy of mitochondrial trifunctional protein (MTP) deficiencyDionisi-Vici, C. / Luchetti, A. / Ijlst, L. / Taroni, F. / Garavaglia, B. / Invernizzi, F. / Wanders, R. J. / Rizzo, C. / Deodato, F. / Boenzi, S. et al. | 2001
- 72
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Congenital porto–left renal venous shunt as a cause of galactosaemiaMizoguchi, N. / Sakura, N. / Ono, H. / Naito, K. / Hamakawa, M. et al. | 2001
- 72
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141-P Mitochondrial trifunctional protein (MTP) deficiency with transitory hypoparathyroidismLabarthe, F. / Benoist, J. F. / Brivet, M. / Vianey-Saban, C. / Despert, F. / Ogier, H. et al. | 2001
- 72
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142-O Multiple acyl-CoA dehydrogenase deficiency: acquired leukodystrophy treated with D,L-3-hydroxybutyrateVan Hove, J. / Jaeken, J. / Lagae, L. / Demaerel, P. / Bourdoux, P. / Niezen-Koning, K. et al. | 2001
- 73
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143-P Different phenotypes in multiple acyl-CoA dehydrogenase deficiencyMerinero, B. / Perez-Cerda, C. / Gangoiti, J. / Ruiz-Sala, P. / Martinez-Pardo, M. / Silva, M. T. G. / Ugarte, M. et al. | 2001
- 73
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144-P Elucidation of the ETF/ETF-QO gene structures enables prenatal diagnosis of the mild form of multiple acyl-CoA dehydrogenation deficiency - DNA-based diagnosis in a pregnancy at riskOlsen, R. K. / Andresen, B. S. / Christensen, E. / Sunde, L. / Nielsen, J. P. / Gregersen, N. et al. | 2001
- 74
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145-P Ventricular fibrillation without overt cardiomyopathy as first presentation of OCTN-2 deficiency during adolescencevan Spronsen, F. J. / Rijlaarsdam, R. S. / Reijngoud, D.-J. / Wanders, R. J. / Niezen-Koning, K. E. / Bink-Boelkens, M. T. / van der Sluijs, F. H. / Dorland, L. / Trijbels, J. M. / Smit, G. P. et al. | 2001
- 74
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146-P Severe neonatal hyperammonemia due to carnitine-acylcarnitine translocase deficiencyBakker, J. A. / Vos, P. / Forget, P. P. / Abeling, N. G. / van der Meer, S. B. / Ruiter, J. / Wanders, R. J. / Rubio-Gozalbo, M. E. et al. | 2001
- 75
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148-P Carnitine transporter deficiency: two new casesDiogo, L. / Garcia, P. / Ribeiro, L. / Silveira, L. / Ruiter, J. P. / Vaz, F. / Almeida, I. T. / Wanders, R. J. et al. | 2001
- 75
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Cardiac manifestations in Fabry diseaseLinhart, A. / Lubanda, J.‐C. / Palecek, T. / Bultas, J. / Karetová, D. / Ledvinová, J. / Elleder, M. / Aschermann, M. et al. | 2001
- 75
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147-P Molecular analysis of carnitine acylcarnitine translocase deficiency in twelve patients: application for prenatal diagnosisCosta, C. / Costa, J. M. / Slama, A. / Boutron, A. / Legrand, A. / Brivet, M. et al. | 2001
- 76
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149-P Primary carnitine deficiency in Tunisa. About two familiesMonastiri, K. / Bousoffara, R. / Maatouk, F. / Mbazaa, R. Z. / Fontaine, M. / Sfar, M. T. et al. | 2001
- 76
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150-P Carnitine biosynthesis in man: definitive evidence for de novo formation of carnitine in newborns using novel methods involving HPLC-electrospray tandem MSVaz, F. M. / Melegh, B. / Bene, J. / Cage, D. A. / Bootsma, A. / Vreken, P. / van Gennip, A. H. / Wanders, R. J. et al. | 2001
- 77
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151-O A series review of mitochondrial liver disease in childhoodRaiman, J. A. / Champion, M. P. / Hadzic, N. / Dhawan, A. / Baker, A. J. / Ball, C. S. / Mieli-Vergani, G. et al. | 2001
- 77
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152-O Somatic cell strategies and the genetic origin of mitochondrial respiratory chain (RC) disordersChristodoulou, J. / Minchenko, J. / Williams, A. / Kirby, D. M. / Thorburn, D. R. et al. | 2001
- 78
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153-P Biochemical aproach to mitochondrial cytopathies in centre Portugal: results of three yearsGrazina, M. M. / Godinho, M. / Simoes, M. / Carreira, I. M. / Diogo, L. / Oliveira, C. R. et al. | 2001
- 78
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154-P Near missed sudden unexpected infant death (SUID) as the first sign of a respiratory chain complex I deficiencyKonstantopoulou, V. / Sperl, W. / Wohlgenannt, J. / Mann, C. / Mayr, J. / Reiter, G. / Sass, J. O. / Skladal, D. et al. | 2001
- 79
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156-P The diagnostic value of complex II determination in the identification of patients with mitochondrial DNA depletionHargreaves, I. P. / Rahman, S. / Guthrie, P. / Leonard, J. V. / Land, J. M. / Heales, S. J. et al. | 2001
- 79
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Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutationBriones, P. / Girós, M. / Martinez, V. et al. | 2001
- 79
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155-P Prenatal diagnosis in a disorder affecting multiple mitochondrial functionsBrivet, M. / Lombes, A. / Slama, A. / Mine, M. / Baumann, C. / Marsac, C. / Boutron, A. / Ogier, H. et al. | 2001
- 80
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158-P Neonatal presentation of complex 3 deficiency in two siblingsDe Meirleir, L. / Van Coster, R. / Damis, E. / Sepulcre, B. / Vamos, E. / Abramowicz, M. / Garcia, M. / Lissens, W. / Seneca, S. et al. | 2001
- 80
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157-P Decreased complex II activity associated with benign myopathyIngebretsen, O. C. / Strand, H. / Ingebrigtsen, M. / Beck Nicolaysen, R. / Lindal, S. et al. | 2001
- 81
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160-P Leigh syndrome with cytochrome c oxidase (COX) deficiency due to SURF-1 gene mutation in a large family - misdiagnosis of maternal inheritanceSykut-Cegielska, J. / Piekutowska-Abramczuk, D. / Popowska, E. / Pronicki, M. / Karczmarewicz, E. / Kulczycka, H. / Kmiec, T. / Pronicka, E. et al. | 2001
- 81
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A new case of succinyl‐CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activityBarić, I. / Sarnavka, V. / Fumić, K. / Maradin, M. / Begović, D. / Ruiter, J. P. N. / Wanders, R. J. A. et al. | 2001
- 81
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159-P Genetic analysis of cytochrome oxidase deficiencyOquendo, C. E. / Brown, R. M. / Brown, G. K. et al. | 2001
- 82
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162-O Dominant inheritance of complex IV deficiency with psychiatric presentationLuder, A. S. / Parker, W. D. et al. | 2001
- 82
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161-P Functional alteration of cytochrome c oxidase (COX) by SURF1 mutationsChowdhury, S. K. / Drahota, Z. / Vojtiskova, A. / Pecina, P. / Hansikova, H. / Zeman, J. / Houstek, J. et al. | 2001
- 83
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Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutationsColl, M. J. / Antón, C. / Chabás, A. et al. | 2001
- 83
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164-P Investigation of defective cardiolipin remodeling in Barth syndrome using yeast as study modelValianpour, F. / Vreken, P. / Nijtmans, L. G. / van Roermund, C. W. / Grivell, L. A. / Wanders, R. J. / Barth, P. G. et al. | 2001
- 83
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163-P Severe complex V deficiency with fatal outcome in the neonatal periodVan Coster, R. / Smet, J. / Eyskens, F. et al. | 2001
- 84
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165-P Mitochondrial respiratory chain defect in Stuve-Wiedeman syndromeDi Rocco, M. / Bruno, C. / Doria-Lamba, L. / Buoncompagni, A. / Bado, M.-G. et al. | 2001
- 84
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166-P Fatal outcome in a case of muscular mtDNA depletionMontoya, J. / Playan, A. / Solano, A. / Baldellou, A. et al. | 2001
- 85
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167-P Clinical, genetic and neuropathological correlation in a case of MELAS/Kearns-Sayre overlapping syndromesSolano, A. / Otaegui, D. / Playan, A. / Olaskoaga, J. / Garcia-Bragado, F. / Urkola, J. / Montoya, J. / Lopez de Munain, A. et al. | 2001
- 85
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168-P Clinical and biochemical heterogeneity associated with an A to G mitochondrial DNA mutation at position 3251 in tRNALeuSeneca, S. / Nassogne, M.-C. / Van den Bergh, P. / Van Coster, R. / Lissens, W. / Liebaers, I. / De Meirleir, L. et al. | 2001
- 85
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Identification of three novel mutations in the PHKA2 gene in Czech patients with X‐linked liver glycogenosisRudolfová, J. / Slováčková, R. / Trbušek, M. / Pešková, K. / Št'astná, S. / Kozák, L. et al. | 2001
- 86
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169-O Functional consequences of G3460A mtDNA mutation in 27 homoplasmic or heteroplasmic members of LHON familyKaplanova, V. / Hansikova, H. / Houstek, J. / Wenchich, L. / Zeman, J. et al. | 2001
- 86
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170-P Late diagnosis of pyruvate dehydrogenase deficiency in two brothers with recurrent ataxiaMine, M. / Rey, C. / Mselati, E. / Landrieu, P. / Boutron, A. / Marsac, C. / Brivet, M. et al. | 2001
- 87
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Mutation spectrum in patients with fructose‐1,6‐bisphosphatase deficiencyHerzog, B. / Morris, A. A. M. / Saunders, C. / Eschrich, K. et al. | 2001
- 87
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172-P Combined deficiency of pyruvate dehydrogenase and alpha-keto acid dehydrogenase complexes: evidence against linkage to lipoamide dehydrogenase (E3) in a casePelcer, M. / De Meirleir, L. / Van Coster, R. / Hennequin, Y. / Goyens, P. / Gerlo, E. / Abramowicz, M. J. et al. | 2001
- 87
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171-P Pyruvate dehydrogenase E3 binding protein deficiencyBrown, R. M. / Head, R. A. / Brown, G. K. et al. | 2001
- 88
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174-P Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesisHogenboom, S. / Romeijn, G. J. / Houten, S. M. / Baes, M. / Wanders, R. J. / Waterham, H. R. et al. | 2001
- 88
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173-P Benign pyruvate carboxylase deficiency with normal developmentRahman, S. / Besley, G. T. / Carbone, M. A. / Robinson, B. H. / Clayton, P. T. et al. | 2001
- 89
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Lessons learned from the development of enzyme therapy for Gaucher diseaseBarranger, J. A. / O'Rourke, E. et al. | 2001
- 89
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175-P Docosahexaenoic acid (DHA) formation in fibroblasts: definitive evidence for the essential role of peroxisomes in DHA formation and identification of the peroxisomal enzymes involvedFerdinandusse, S. / Denis, S. / Spector, A. A. / Wanders, R. J. et al. | 2001
- 89
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176-P Investigation of calcium signalling in the peroxisome using the targeted photoprotein aequorinWood, S. / Badminton, M. et al. | 2001
- 89
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Metabolic Diseases: Foundations of Clinical Management, Genetics and PathologyGilbert‐Barness, E. / Barness, L. et al. | 2001
- 90
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177-P Transport of bile acid precursors into peroxisomesGan-Schreier, H. / Peters, V. / Kohlmuller, D. / Brink, H. J. t. / Jakobs, C. / Volkl, A. / Hoffmann, G. F. et al. | 2001
- 90
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178-P Molecular basis of Zellweger syndrome and other peroxisome biogenesis disorders: mutation analysis of human PEX6 geneGootjes, J. / Prins, G. T. / Barth, P. / Poll-The, B. T. / Waterham, H. R. / Wanders, R. J. et al. | 2001
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179-A Incidence of peroxisomal diseases in Slovakia after five years determination of VLCFAs in serum samples of patients with suspected metabolic disordersPetrovic, R. / Chandoga, J. et al. | 2001
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180-P Complete diagnosis in a Zellweger CHRS neonate of CG 4Roels, F. / Nuttin, C. / Degremont, C. / Gootjes, J. / Espeel, M. / Dacremont, G. / Wanders, R. J. / Barth, P. G. et al. | 2001
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PrefaceFowler, Brian / Besley, Guy et al. | 2001
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181-P PEX1 deficiency misdiagnosed as Leber's congenital amaurosisMichelakakis, H. / Zafeiriou, D. / Moraitou, M. / Goutjes, J. / Vreken, P. / Wanders, R. et al. | 2001
- 92
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182-O 2-Methylacyl-CoA racemase: its deficiency in some late-onset neuropathies and resolution of the functional role of the peroxisomal and mitochondrial racemases - products of a single gene in pristanic acid beta-oxidationFerdinandusse, S. / Denis, S. / Waterham, H. R. / Wanders, R. J. et al. | 2001
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Garrod's foresight; our hindsightScriver, C. R. et al. | 2001
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183-P Tremor as the presenting feature of alpha-methylacyl-CoA racemase deficiency: extending the clinical phenotypeAlger, S. / Preece, M. A. / Clarke, C. E. / Denis, S. / Ferdinandusse, S. / Wanders, R. J. et al. | 2001
- 93
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184-P Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is peroxisomalJansen, G. A. / van den Brink, D. M. / Ofman, R. / Draghici, O. / Dacremont, G. / Wanders, R. J. et al. | 2001
- 94
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186-P Mutation analysis and an internet accessible database for X-linked adrenoleukodystrophyKemp, S. / Waterham, H. R. / Cutting, G. / Raymond, G. V. / Wanders, R. J. / Moser, H. W. et al. | 2001
- 94
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185-O Genetic heterogeneity within Refsum disease: discovery of its underlying basis through the identification of mutations in the PEX7 gene which is also mutated in rhizomelic chondrodysplasia punctata type 1van den Brink, D. M. / Waterham, H. R. / Hoogenhout, E. / Jansen, G. A. / Mooijer, P. A. / Gibberd, F. B. / Feher, M. D. / Wierzbicki, A. S. / Skjeldahl, O. / Wanders, R. J. et al. | 2001
- 95
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188-O Late-onset phenotype of the X-ALD gene inactivation in mice: a mouse model for for X-adrenomyeloneuropathyPujol, A. / Valianpour, F. / Hindelang, C. / Camps, C. / Vreken, P. / Wanders, R. J. / Mandel, J. L. et al. | 2001
- 95
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187-O Adrenoleukodystrophy protein (ALDP): functional characterization of mutations in the nucleotide binding fold (NBF)Gartner, J. / Dehmel, T. / Klusmann, A. / Roerig, P. et al. | 2001
- 96
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190-P Mutation analysis in families with X-ALD and OTC deficiencyHrebicek, M. / Dvorakova, L. / Storkanova, G. / Dobrovolny, R. / Kmoch, S. / Hruba, E. / Kost alova, E. / Zeman, J. / Elleder, M. et al. | 2001
- 96
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189-P Both constitutive and fenofibrate-inducible mouse ALDR mRNA expression is regulated by peroxisome proliferator-activated receptor alphaWeinhofer, I. / Netik, A. / Korosec, T. / Forss-Petter, S. / Berger, J. et al. | 2001
- 97
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192-P Biochemical characterization of beta-galactosidase in GM1 patients homozygotes for the Brazilian 1627insG mutationCoelho, J. C. / Sano, R. / Baiotto, C. / Giugliani, R. et al. | 2001
- 97
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Clinically relevant therapeutic endpoints in type I Gaucher diseaseHollak, C. E. M. / Maas, M. / Aerts, J. M. et al. | 2001
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191-P Infantile GM1 gangliosidosis in South Brazil: haplotype analysis in families carrying the two common mutationsGiugliani, R. / Baiotto, C. / Dornelles, C. / Coelho, J. / Sano, R. / Matte, U. et al. | 2001
- 98
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193-O Pathogenesis of the GM2 gangliosidoses - does CNS inflammation play a causative role?Jeyakumar, M. / van der Spoel, A. / Butters, T. D. / Proia, R. L. / d Azzo, A. / Perry, V. H. / Dwek, R. A. / Platt, F. M. et al. | 2001
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194-O Fabry disease enzyme therapy: phase 3 and extension resultsDesnick, R. J. / International Fabry Study Group et al. | 2001
- 99
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195-O Severe clinical presentation in eight Fabry's carriersGuffon, N. / Fouilhoux, A. / Maire, I. / Vanier, M. T. / Froissart, R. et al. | 2001
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196-P Fabry disease in Belgium: ascertainement of twelve familiesRoland, D. / Dehout, F. / Caillaud, C. / Hilbert, P. / Libert, J. / Pirson, Y. / Van Maldergem, L. et al. | 2001
- 100
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198-P Natural history of Gaucher disease type I in Turkish childrenYuce, A. / Gurakan, F. / Kocak, N. / Ozen, H. et al. | 2001
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197-O The Gaucher Registry: hematologic, visceral, and bone response after 24 months of enzyme replacement therapy (ERT) in patients with type 3 diseasePastores, G. M. / Andersson, H. / Charrow, J. / Kaplan, P. / Kolodny, E. H. / Mistry, P. / Rosenbloom, B. / Scott, C. R. / Wappner, R. / Weinreb, N. et al. | 2001
- 101
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200-P Clinical presentation and results of treatment of two Gaucher-patients homozygous for the L444P mutationEyskens, F. / Bertrand, M. / Janssens, G. et al. | 2001
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199-A Enzyme replacement with cerezyme (Genzyme) in children with Gaucher disease type 1Radeva, B. et al. | 2001
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202-O Enzyme and gene therapy for types A and B Niemann-Pick diseaseSchuchman, E. H. et al. | 2001
- 102
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201-P Insulin-like growth factors (IGFS) in childhood-onset Gaucher disease (GD)Rite, S. / Baldellou, A. / Giraldo, P. / Labarta, J. I. / Giralt, M. / Rubio-Felix, D. / Guallar, A. / Perez-Calvo, J. I. / Pocovi, M. et al. | 2001
- 103
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204-O Adult metachromatic leukodystrophy (MLD) treated by bone marrow transplantation (BMT) in 18 patientsKrivit, W. / Shapiro, E. G. / Peters, C. / Lockman, L. A. / Charnas, L. / Loes, D. / DeFor, T. / Yeager, A. / Cox, T. M. / Prentice, H. G. et al. | 2001
- 103
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203-P Niemann-Pick C disease: analysis of Czech and Slovak patientsKosalova, E. / Elleder, M. et al. | 2001
- 104
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206-P Secondary skeletal involvement in the Sanfilippo syndromeRigante, D. / Ranieri, P. / Segni, G. / Ricci, R. / Antuzzi, D. / Caradonna, P. et al. | 2001
- 104
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205-P Very early bone marrow transplantation (BMT) in a child presenting late infantile metachromatic leukodystrophy (MLD)Feillet, F. / Bordigoni, P. / Straczek, J. / Vidailhet, M. et al. | 2001
- 105
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207-P Special presentation of Sanfilippo C with severe growth retardation and coarse faciesNeele, D. M. / de Coul, M. E. O. / Wevers, R. A. / van der Knaap, M. S. / Jakobs, C. et al. | 2001
- 105
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208-P Diagnosis of late infantile neuronal lipofuscinosis (LINCL) by measurement of TPPI activity in leucocytesWorthington, V. C. / Young, E. P. / Jackson, M. / Winchester, B. G. et al. | 2001
- 106
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210-O Stimulation of GLUT1 gene transcription by thioctic acid and its potential therapeutic value in GLUT1 deficiency syndrome (Glut1DS)Kulikova-Schupak, R. / Ho, Y.-Y. / Kranz-Eble, P. / Yang, H. / Wang, D. / De Vivo, D. C. et al. | 2001
- 106
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209-P Juvenile-onset Batten's disease with palmitoyl protein thioesterase (PPT) deficiencyGray, R. G. / Holmes, B. / Young, E. P. / Worthington, V. C. / Green, S. H. et al. | 2001
- 107
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Gaucher disease: understanding the molecular pathogenesis of sphingolipidosesCox, T. M. et al. | 2001
- 107
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212-P Mutation analysis of glucose-6-phosphatase gene in glycogen storage disease type 1A Turkish patientsTerzioglu, M. / Ozen, H. / Emre, S. / Kocak, N. / Ciliv, G. / Saltik, I. / Yuce, A. / Gurakan, F. et al. | 2001
- 107
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211-O Hepatocyte transplantation as a treatment for glycogen storage disease type I ABurlina, A. B. / Gerunda, G. / Neri, D. / Merenda, R. / Feltracco, P. / Giron, G. / Vilei, M. T. / Granato, A. / Muraca, M. et al. | 2001
- 108
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214-P Unusual polyglucosan body myopathy possibly due to a double heterozygosity for glycogenosis type III and IVShin, Y. S. / Podskarbi, T. / Reimann, J. / Schroder, R. et al. | 2001
- 108
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213-O Heterogeneity of AGL mutations in cases of glycogen storage disease IIIA (GSD IIIA) diagnosed in central EuropeSanter, R. / Kinner, M. / Schneppenheim, R. / Chen, Y. T. / Mayatepek, E. / Bosshard, N. / Steinmann, B. / Schaub, J. et al. | 2001
- 109
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215-P Mild hepatic phenotype of glycogen storage disease due to branching enzyme deficiency (GSD IV)Taybert, J. / Pronicki, M. / Kepka, A. / Sawnor-Korszynska, D. / Wozniewicz, B. / Pronicka, E. et al. | 2001
- 109
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216-P Mutation analysis of GALT gene in Iranian populationAzmi, H. / Naghibzadeh, N. / Zare, S. / Jalali, J. / Nakhaie, M. / Falahian, M. / Sanati, M. H. / Houshmand, M. et al. | 2001
- 110
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217-P Phast-system isoelectrofocusing of plasma transferrin: abnormal cathodal bands in newborns with UDP-galactose 4-epimerase deficiencyWiescher, C. E. / Podskarbi, T. / Dacremont, G. / Shin, Y. S. et al. | 2001
- 110
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218-P Congenital disorders of glycosylation in 31 Spanish patientsBriones, P. / Vilaseca, M. A. / Schollen, E. / Maties, M. / Ferrer, I. / Gomez, O. / Dalfo, E. / Colome, C. / Artuch, R. / Chabas, A. et al. | 2001
- 111
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220-P Congenital dyserythropoetic anemia type II (CDA II/hempas), new biochemical insights in a disorder of glycosylationDenecke, J. / Kranz, C. / Conradt, H. / Heimpel, H. / Feldmann, R. / Marquardt, T. et al. | 2001
- 111
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219-P Improvement of CDG-diagnosis in cases of borderline or new IEF-transferrin patternsFang, J. / Peters, V. / Hackler, R. / Assmann, B. / Schaefer, J. R. / Hoffmann, G. F. et al. | 2001
- 112
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222-P Congenital disorders of glycosilation type-X with type 2 pattern of transferrin isoelectric focusingQuelhas, D. / Vilarinho, L. / Teles, E. L. / Rodrigues, E. / Diogo, L. / Garcia, P. / Jaeken, J. et al. | 2001
- 112
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221-P Two siblings with severe mental retardation, facial dysmorphia and ectopic kidneys and a type 2 pattern of serum sialotransferrin isoelectrofocusingVan Maldergem, L. / Jaeken, J. et al. | 2001
- 113
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223-P CDG syndrome type IIA: characterization of the specific carbohydrate side chain defect by mass spectrometryStadler, S. / Hofmann, S. / Hassler, A. / Pontz, B. / Gerbitz, K.-D. / Bauer, M. F. / Gempel, K. et al. | 2001
- 113
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224-P Defective galactosylation in congenital disorder of glycosylation type X (CDG-X)Kranz, C. / Sagi, D. / Denecke, J. / Schottstadt, C. / Lesiewicz, K. / Peter-Katalinic, J. / Weglage, J. / Conradt, H. / Marquardt, T. et al. | 2001
- 114
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226-P The Smith-Lemli-Opitz syndrome in 30 cases: report of age-dependent clinical findings and sterolsGiros, M. L. / Bakker, J. A. / Arens, Y. / de Die-Smulders, C. / van der Meer, S. B. / Spaapen, L. J. et al. | 2001
- 114
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225-P Biochemical and molecular diagnosis of inherited disorders of cholesterol biosynthesisWaterham, H. R. / Romeijn, G. J. / Koster, J. / Oostheim, W. / Vreken, P. / Duran, M. / Wanders, R. J. et al. | 2001
- 115
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228-P Clinical and biochemical presentation of Smith-Lemli-Opitz syndrome in a child with severe cardiac involvement and hepatomegalyLefevere, M. / Eyskens, F. / Dockx, M. et al. | 2001
- 115
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227-P Smith-Lemli-Opitz syndrome - a crucial role of biochemical diagnosisMaunowicz, E. M. / Gradowska, W. / Popowska, E. / Ciara, E. / Krajewska-Walasek, M. et al. | 2001
- 116
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230-P Simvastatin in adult Smith-Lemli-Opitz patients: initiation of an international trialArens, Y. / Bakker, J. / Curfs, P. / Spaapen, L. / Wevers, R. / Rubio-Gozalbo, M. / de Die-Smulders, C. et al. | 2001
- 116
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229-P Spinocerebellar ataxia in a child with Smith-Lemli-Opitz syndromeEyskens, F. / Dom, L. / Robert, C. et al. | 2001
- 117
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231-O Molecular basis of autosomal recessive desmosterolosisWaterham, H. R. / Koster, J. / Romeijn, G. J. / Vreken, P. / Hennekam, R. C. / Andersson, H. C. / FitzPatrick, D. / Kelley, R. I. / Wanders, R. J. et al. | 2001
- 117
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Changes in clinical practice with the unravelling of the disease: Connective-tissue disordersSpranger, J. et al. | 2001
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Changes in clinical practice with the unravelling of diseases: Connective‐tissue disordersSpranger, J. et al. | 2001
- 117
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232-P Effects of treatment of cerebrotendinous xanthomatosis (CTX): the experience in 3 patientsEyskens, F. / Dom, L. / Melis, J. et al. | 2001
- 118
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233-P Stable isotope dilution enzyme assays for the detection of inborn errors of creatine synthesisVerhoeven, N. M. / Schor, D. S. / Roos, B. / Struys, E. A. / van der Knaap, M. S. / Salomons, G. S. / Jakobs, C. et al. | 2001
- 118
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234-O Arginine: glycine amidinotransferase (AGAT) deficiency: the third inborn error of creatine metabolismItem, C. / Stromberger, C. / Alessandri, M. G. / Bianchi, M. C. / Fornai, M. T. F. / Cioni, G. / Stockler-Ipsiroglu, S. et al. | 2001
- 119
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235-P Creatine transporter deficiency: development of a new functional test for creatine uptake in cultured cellsSalomons, G. S. / van Dooren, S. J. / Bunea, D. / Verhoeven, N. M. / Degrauw, T. J. / Jakobs, C. et al. | 2001
- 119
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236-O X-Linked creatine transporter defect: the second familySalomons, G. S. / van Dooren, S. J. / Verhoeven, N. M. / Cecil, K. M. / Ball, W. S. / Degrauw, T. J. / Jakobs, C. et al. | 2001
- 120
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238-P Mutation analysis in 5 patients with guanidinoacetate methyltransferase (GAMT) deficiency by a DGGE screening methodItem, C. / Stromberger, C. / Muhl, A. / Stockler-Ipsiroglu, S. et al. | 2001
- 120
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237-P The treatment of guanidinoacetate methyltransferase (GAMT) deficiency: clinical and biochemical follow upLeuzzi, V. / Bianchi, M. C. / Tosetti, M. / Carducci, C. / Antonozzi, I. et al. | 2001
- 121
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239-O Activation of mitochondiral ATP-synthase in the brain of knock-out mice with GAMT-deficiencyDas, A. M. / Schmidt, A. / Lucke, T. / Ullrich, K. / Isbrandt, D. et al. | 2001
- 121
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240-P Identification of the molecular defect in GABA-transaminase (GABA-T) deficiencySalomons, G. / Bayunskaya, L. / Roosenberg, E. / Hogema, B. M. / Jaeken, J. / Gibson, K. M. / Jakobs, C. et al. | 2001
- 122
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Remaining problems in the management of patients with Gaucher diseaseErikson, A. et al. | 2001
- 122
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242-O Spongy degeneration of the nervous system (Canavan-Van Bogaert-Bertrand Disease) in two adultsEyskens, F. / De Wit, P. / Appel, B. / Lefevere, M. et al. | 2001
- 122
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241-P Canavan disease: improved molecular diagnosisSalomons, G. S. / van Dooren, S. J. / Elpeleg, O. N. / Jakobs, C. et al. | 2001
- 123
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244-P Brain atrophy due to secondary cobalamin deficiency in an 8 month old infantAugoustides-Savvopoulou, P. / Zafeiriou, D. / Nikolaidis, N. / Tzimouli, V. / Sewell, A. / Rosenblatt, D. S. et al. | 2001
- 123
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243-O Delivery of rAAV-aspartoacylase in knock out mouse for Canavan diseaseMatalon, R. / Rady, P. / Surendran, S. / Quast, M. / Campbell, G. / Mandel, R. / Muzyczka, N. et al. | 2001
- 124
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245-P Different clinical courses of progressive familial encephalopathy with calcification of the basal ganglia and white matter in two siblings with Coats' diseaseGrunewald, S. / Nischal, K. K. / Russell-Eggitt, I. / Surtees, R. et al. | 2001
- 124
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246-P Do inborn errors of intermediary metabolism cause oxidative stress?Vilaseca, M. A. / Artuch, R. / Colome, C. / Moyano, D. / Brandi, N. / Campistol, J. / Pineda, M. / Sierra, C. et al. | 2001
- 125
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247-P Rapid determination of the antioxidant enzymes catalase and peroxidase in dried blood spotsLukacs, Z. / Schmitt, C. / Kohlschutter, A. et al. | 2001
- 125
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248-P Blood glutathione concentrations in pediatric subjectsPastore, A. / Piemonte, F. / Locatelli, M. / Lo Russo, A. / Gaeta, L. M. / Tozzi, G. / Federici, G. et al. | 2001
- 126
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249-P Glutathione metabolism in blood of patients with Friedreich's ataxiaPiemonte, F. Z. / Pastore, A. / Tozzi, G. / Tagliacozzi, D. / Santorelli, F. M. / Carrozzo, R. / Casali, C. / Federici, G. / Bertini, E. et al. | 2001
- 126
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250-P Chromosome fragility in glutathione synthetase deficiencyFiumara, A. / Mattina, T. / Pavone, V. / Marzullo, E. / Sorge, G. et al. | 2001
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The use of functional genomics in C. elegans for studying human development and diseaseKuwabara, P. E. / O'Neil, N. et al. | 2001
- 127
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251-P S-Nitrosoglutathione quantification in human bloodPastore, A. / Tozzi, G. / Gaeta, L. M. / Federici, G. / Bertini, E. / Piemonte, F. et al. | 2001
- 127
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252-P Antioxidant enzymes and treatment in oxidative phosphorylation diseasesSierra, C. / Brandi, N. / Moreno, J. / Colome, C. / Vilaseca, M. A. / Artuch, R. / Pineda, M. et al. | 2001
- 128
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254-P Thiol status in metabolic diseaseLapatto, R. / Leonard, J. V. et al. | 2001
- 128
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253-P Age-associated changes in antioxidative defense parameters measured in small human muscle biopsy samplesKohlschutter, A. / Sturenburg, H. J. / Stangneth, B. / Finckh, B. et al. | 2001
- 129
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256-P Evidence of the involvement of oxidative stress in the brain of Na^+,K^+-ATPase activity induced by homocysteineWyse, A. T. / Streck, E. L. / Tagliari, B. / Zugno, A. I. / Franzon, R. / Wannmacher, C. M. / Wajner, M. et al. | 2001
- 129
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255-P Effect of guanidino compounds accumulating in hyperargininemia on oxidative stress in rat brainWyse, A. T. / Bavaresco, C. S. / Hagen, M. E. / Delwing, D. / Wajner, M. / Wannmacher, C. M. / Dutra-Filho, C. S. et al. | 2001
- 130
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258-P Ubiquinone-10 content and respiratory function in lymphocytes of phenylketonuric (PKU) patientsArtuch, R. / Sierra, C. / Colome, C. / Vilaseca, M. A. / Cambra, F. J. / Lambruschini, N. / Campistol, J. et al. | 2001
- 130
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257-P Lipophylic antioxidants in phenylketonuric patientsColome, C. / Artuch, R. / Vilaseca, M. A. / Sierra, C. / Brandi, N. / Lambruschini, N. / Cambra, F. J. / Campistol, J. S. et al. | 2001
- 131
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259-P Experimental phenylketonuria provokes oxidative stress in rat brainHagen, M. E. K. / Pederzolli, C. D. / Sgaravatti, A. M. / Bridi, R. / Wajner, M. / Wannmacher, C. M. / Wyse, A. T. / Dutra-Filho, C. S. et al. | 2001
- 131
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260-P Intrastriatal methylmalonic acid administration induces striatal lipoperoxidation and inhibits Na^+,K^+-ATPase activityMello, C. F. / Malfatti, C. R. / Royes, L. F. / Grotto, D. / Durigon, D. / Perdomo, D. M. / Wyse, A. T. / Rubin, M. A. et al. | 2001
- 132
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262-P Hypohomocysteinemia and highly increased proportion of S-sulfonated plasma transthyretin (TTR) in molybdenum cofactor deficiency (MCD)Sass, J. O. / Kishikawa, M. / Puttinger, R. / Erwa, W. / Kamper, A. / Shimizu, A. / Sperl, W. et al. | 2001
- 132
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261-P Glutaric acid induces oxidative stress in brain of young ratsMarques, F. O. / Hagen, M. E. / Pederzolli, C. D. / Sgaravati, A. M. / Wannmacher, C. M. / Wyse, A. T. / Wajner, M. / Dutra-Filho, C. S. et al. | 2001
- 133
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263-P High cross-linking collagen residues excretion in urine, high bone turnover, and trend to osteomalacia in homocystinuric late diagnosed adultsParrot, F. / Malterre, L. / Redonnet-Vernhet, I. / Mehsen, N. / Gin, H. / Bottari, S. / Schaeverbeke, T. et al. | 2001
- 133
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264-P Kinetic studies on Na^+,K^+-ATPase activity inhibition caused by homocysteineStreck, E. L. / Zugno, A. I. / Franzon, R. / Tagliari, B. / Sarkis, J. J. / Wajner, M. / Wannmacher, C. M. / Wyse, A. T. et al. | 2001
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266-P Alanine prevents the inhibition of Na^+,K^+-ATPase by metabolites accumulating in maple syrup urine diseaseWannmacher, C. M. / Burger, C. / Wajner, A. / Klein, D. R. / Dutra-Filho, C. S. / Wajner, M. / Wyse, A. T. et al. | 2001
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265-P Arginine administration decreases brain Na^+,K^+-ATPase and impairs retention of inhibitory avoidance in ratsReis, E. A. / Oliveira, L. S. / Lamers, M. L. / Netto, C. A. / Wyse, A. T. et al. | 2001
- 135
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268-P Evaluation of mitochondrial respiratory chain involvement in neuronal ceroid lipofuscinosisGrazina, M. M. / Godinho, M. / Simoes, M. / Oliveira, L. M. / Carreira, I. M. / Oliveira, C. R. et al. | 2001
- 135
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267-P Decrease of pyruvate kinase activity in cerebral cortex of hyperphenylalaninemic ratsWannmacher, C. M. / Feksa, L. R. / Cornelio, A. R. / Rech, V. C. / Dutra-Filho, C. S. / Wyse, A. T. / Wajner, M. et al. | 2001
- 136
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270-P Methylmalonic acid inhibits activities of the respiratory chain complexes in rat brainBrusque, A. M. / Rosa, R. B. / Schuck, P. / Dalcin, K. / Wannmacher, C. M. / Dutra-Filho, C. S. / Wyse, A. T. / Briones, P. / Wajner, M. et al. | 2001
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269-P 3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionate deficiency and propionic aciduriaOkun, J. G. / Kolker, S. / Ahlemeyer, B. / Assmann, B. / Horster, F. / Exner-Camps, S. / Kohlmuller, D. / Mayatepek, E. / Krieglstein, J. / Hoffmann, G. F. et al. | 2001
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271-P Methylmalonate-mediated complex II inhibition: effect or artefact?Horster, F. / Okun, J. G. / Mayatepek, E. / Hoffmann, G. F. / Kolker, S. et al. | 2001
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272-P GM~1 ganglioside attenuates methylmalonic acid-induced convulsions and TBARS productionMello, C. F. / Fighera, M. R. / Oliveira, T. G. / Frussa-Filho, R. / Rocha, J. B. / Dutra-Filho, C. S. / Bonini, J. S. et al. | 2001
- 138
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273-P CSF secondary neurochemical markers of the neurodegenerative progression in Sandhoff diseaseLatini, A. / Larovere, L. / Oller-Ramirez, A. / Paschini-Capra, A. / Giner-Ayala, A. / de Kremer, R. D. et al. | 2001
- 138
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274-P CSF downstream mediators of excitotoxicity in different stages of glutaric acidemia type ILatini, A. / Larovere, L. / Depetris-Boldini, C. / Guelbert, N. / de Kremer, R. D. et al. | 2001
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Applications of mass spectrometry in the study of inborn errors of metabolismClayton, P. T. et al. | 2001
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275-P Intrastriatal administration of 3-hydroxyglutarate induces convulsions and excitotoxic lesions in ratsKolker, S. / de Mello, C. F. / Ahlemeyer, B. / Lima, T. T. / Fighera, M. R. / Mayatepek, E. / Krieglstein, J. / Hoffmann, G. F. / Wajner, M. et al. | 2001
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276-O Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in vitroKolker, S. / Ahlemeyer, B. / Huhne, R. / Mayatepek, E. / Krieglstein, S. / Hoffmann, G. F. et al. | 2001
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278-P Inhibition of cytochrome C oxidase activity in rat cerebral cortex and human skeletal muscle by D-2-hydroxyglutaric acid in vitroWajner, M. / Silva, C. G. / Ribeiro, C. A. / Leipnitz, G. / Filho, C. S. D. / Wyse, A. T. / Wannmacher, C. M. et al. | 2001
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277-P D-2- and L-2-hydroxyglutarate: characterization of two novel endogenous excitotoxic organic acidsKolker, S. / Okun, J. / Ahlemeyer, B. / Horster, F. / Mayatepek, E. / Krieglstein, S. / Hoffmann, G. F. et al. | 2001
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279-P Abnormalities of pyrimidine degradation caused by severe cholestatic liver diseaseAbeling, N. G. / Van Kuilenburg, A. B. / Sass, J. O. / Scholten, E. G. / Marti, R. / Fruhwirth, M. / Van Gennip, A. H. et al. | 2001
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280-P Severe metabolic decompensation in acute lymphocytic leukemia subtype B under TPN and methotrexate therapySchiaffino, M. C. / Caruso, U. / Cerone, R. / Tomarchi, M. / Migliaccio, G. / Manzitti, C. / Minniti, G. / Fantasia, A. R. / Dufour, C. et al. | 2001
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281-O Novel mutations in the dihydropyrimidine dehydro-genase (DPD) gene interpreted in a 3-dim. frameworkvan Gennip, A. H. / Dobritzsch, D. / Haasjes, J. / Meinsma, R. / Waterham, H. R. / Lindqvist, Y. / van Kuilenburg, A. B. et al. | 2001
- 142
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282-P Novel splice mutation in a patient with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiencyGaigl, Z. / Shin, Y. S. / Gathof, B. S. et al. | 2001
- 143
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284-P Sulfite and xanthine oxidase in leukocytes: application in diagnosis of molybdenum cofactor deficiency and isolated holoenzyme deficiencyKupka, D. M. / Podskarbi, T. / Peitz, J. / Shin, Y. S. et al. | 2001
- 143
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283-P Successful treatment of impaired sulfite and xanthine oxidation in a patient lacking molecular evidence of Mo-cofactor deficiencyHuijmans, J. G. / Williams, M. / de Coo, I. F. / de Klerk, J. B. / Dorche, C. / Duran, M. et al. | 2001
- 144
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285-P Mild form of infantile isolated sulphite oxidase deficiency: treatment with low protein diet and cysteamineMartins, E. / Cardoso, M. L. / Vilarinho, L. / Barbot, C. et al. | 2001
- 144
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286-P Frequency of H1069Q mutation in the ATP7B gene in Czech patients with Wilson diseaseMartasek, P. / Pospisilova, L. / Fruhauf, P. / Bruha, R. / Zeman, J. / Marecek, Z. et al. | 2001
- 145
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287-P Insulin secretion in patients with the hyperinsulinism/hyperammonaemia-syndromeMeissner, T. / Zelezny, R. / Beinbrech, B. / Schaefer, F. / Spiekerkotter, U. / Wendel, U. / Santer, R. / Mayatepek, E. et al. | 2001
- 145
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288-P alpha-Ketoglutarate - a diagnostic marker in patients with the hyperinsulinism-hyperammonaemia syndromeSanter, R. / Kinner, M. / Schaub, J. / Meissner, T. / Feyh, P. / Mayatepek, E. et al. | 2001
- 146
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289-P The paraoxonase Gln-Arg 192 polymorphism in Romanian patients with noninsulin-dependent diabetes mellitus (NIDDM)Cudrici, C. D. / Popescu, T. M. / Jebeleanu, G. et al. | 2001
- 146
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290-O Congenital erythropoietic porphyria: characterization of novel mutations in uroporphyrinogen III synthaseCunha, L. / Shady, A. / Astrin, K. / Colby, B. / Desnick, R. et al. | 2001
- 147
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291-P Congenital erythropoietic porphyria (Gunther disease)Rosipal, R. / Malonova, E. / Plavka, R. / Sedlacek, P. / Stary, J. / Zeman, J. / Martasek, P. et al. | 2001
- 147
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292-P Pravastatin in treatment of secondary hypercholesterolaemia in Alagille's syndrome. Shortterm administrationProchazkova, D. / Stejskal, J. et al. | 2001
- 148
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293-P Overlapping of triglyceride levels in patients with familial combined hypercholesterolemia (FCH) and heterozygeous familial hypercholesterolemia (FH)Widhalm, K. / Lindemayr, A. / Sickl, E. / Eisenkolbl, J. / Schmidt, H. et al. | 2001
- 148
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294-P Does apolipoprotein E (ApoE) epsilon 4 allele modulate the familial combined hyperlipemia expression?Bondone, C. / Gomez, A. / Mercadante, G. / Bo, M. / Allora, C. / Guardamagna, O. / Restagno, G. et al. | 2001
- 149
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295-P Elevated non-transferrin-bound iron (NTBI) in patients with hemochromatosisLehotay, D. C. / Jakeman, A. / Thompson, T. / McHattie, J. et al. | 2001
- 149
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296-P Clinical follow-up and biochemical investigation of a case of thiamine-responsive megaloblastic anaemia (TRMA)Frick, T. / Cervantes, H. / Neufeld, E. / Schorderet, D. / Mullis, P. E. / Nuoffer, J.-M. et al. | 2001
- 150
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298-A Screening of common mutation of alpha 1 antitrypsin deficiency in Iranian populationZare, S. / Azmi, H. / Naghibzadeh, N. / Fallahian, M. / Lotfi, A. / Khodadad, A. / Sanati, M. / Houshmand, M. et al. | 2001
- 150
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297-P Bone marrow transplantation (BMT): cure for familial mediterranean fever (FMF)?Christodoulou, J. / Milledge, J. / Shaw, P. J. / Bennetts, B. / Williamson, S. / Roscioli, A. / Mansour, A. et al. | 2001
- 151
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299-P ARC syndrome: heterogeneity in liver dysfunctionHowells, R. / Calvin, J. / Karet, F. / Firth, H. / Ramaswami, U. et al. | 2001
- 151
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300-P A pilot transition education program for children with inborn errors of metabolism: the more on my own clinicAntle, B. J. / Anderson, D. / Phillips, H. / Feigenbaum, A. et al. | 2001
- 151
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Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disordersSuzuki, Y. / Shimozawa, N. / Imamura, A. / Fukuda, S. / Zhang, Z. / Orii, T. / Kondo, N. et al. | 2001
- 152
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302-A What shall we do with a problem of inborn errors of metabolism in St. Petersburg?Mkheidze, M. O. et al. | 2001
- 152
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301-P A multidisciplinary clinic for adolescents and adults with inherited metabolic disease - six years experienceAlger, S. / Elias, E. / Cramb, R. / McKiernan, P. / Johnson, J. / Preece, M. A. / Green, A. et al. | 2001
- 153
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303-A Provision of medical genetic services in Thailand: Siriraj experienceWasant, P. et al. | 2001
- 153
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304-O Body composition in young adults with protein-IEMWilcox, G. / Strauss, B. J. / Francis, D. E. / Upton, H. / Boneh, A. et al. | 2001
- 154
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305-A Nutrient intakes of morbidly obese adolescentsSchwabl, R. / Aigner, C. / Eisenkolbl, J. / Widhalm, K. et al. | 2001
- 155
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Author Index| 2001
- 166
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Import of proteins into mitochondria: A novel pathomechanism for progressive neurodegenerationBauer, M. F. / Neupert, W. et al. | 2001
- 181
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Clinical and molecular studies of mitochondrial diseaseGoto, Y. et al. | 2001
- 189
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The role of chaperone‐assisted folding and quality control in inborn errors of metabolism: Protein folding disordersGregersen, N. / Bross, P. / Andresen, B. S. / Pedersen, C. B. / Corydon, T. J. / Bolund, L. et al. | 2001
- 213
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A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuriaErlandsen, H. / Stevens, R. C. et al. | 2001
- 230
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3rd International Conference on Homocysteine Metabolism| 2001
- 231
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Liver repopulation for the treatment of metabolic diseasesGrompe, M. et al. | 2001
- 245
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Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficultiesWraith, J. E. et al. | 2001
- 251
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Enzyme replacement and beyondDesnick, R. J. et al. | 2001
- 266
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Enzyme therapy for Pompe disease with recombinant human alpha-glucosidase from rabbit milkVan den Hout, J. M. / Reuser, A. J. / de Klerk, J. B. / Arts, W. F. / Smeitink, J. A. / Van der Ploeg, A. T. et al. | 2001
- 266
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Enzyme therapy for Pompe disease with recombinant human α‐glucosidase from rabbit milkVan den Hout, J. M. P. / Reuser, A. J. J. / de Klerk, J. B. C. / Arts, W. F. / Smeitink, J. A. M. / Van der Ploeg, A. T. et al. | 2001
- 275
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Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapyPlatt, F. M. / Jeyakumar, M. / Andersson, U. / Priestman, D. A. / Dwek, R. A. / Butters, T. D. / Cox, T. M. / Lachmann, R. H. / Hollak, C. / Aerts, J. M. F. G. et al. | 2001
- 291
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Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?Wilcken, B. et al. | 2001
- 299
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Newborn mass screening versus selective investigation: Benefits and costsPollitt, R. J. et al. | 2001
- 303
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New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometryAlbers, S. / Waisbren, S. E. / Ampola, M. G. / Brewster, T. G. / Burke, L. W. / Demmer, L. A. / Filiano, J. / Greenstein, R. M. G. / Ingham, C. L. / Korson, M. S. et al. | 2001
- 305
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Amino acids: Analytical aspectsMayne, P. D. / Roche, G. / Deverell, D. et al. | 2001
- 309
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The management of organic acidaemias: The role of transplantationLeonard, J. V. / Walter, J. H. / McKiernan, P. J. et al. | 2001
- 312
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Diagnosis of mitochondrial disorders: Clinical and biochemical approachThorburn, D. R. / Smeitink, J. et al. | 2001
- 319
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Management of neuronopathic Gaucher disease: A European consensusVellodi, A. / Bembi, B. / de Villemeur, T. B. / Collin‐Histed, T. / Erikson, A. / Mengel, E. / Rolfs, A. / Tylki‐Szymanska, A. et al. | 2001
- 328
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Clinical course and biochemistry of sialuriaEnns, G. M. / Seppala, R. / Musci, T. J. / Weisiger, K. / Ferrell, L. D. / Wenger, D. A. / Gahl, W. A. / Packman, S. et al. | 2001
- 337
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Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defectsOnkenhout, W. / Venizelos, V. / Scholte, H. R. / De Klerk, J. B. / Poorthuis, B. J. et al. | 2001
- 337
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Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β‐oxidation defectsOnkenhout, W. / Venizelos, V. / Scholte, H. R. / de Klerk, J. B. C. / Poorthuis, B. J. H. M. et al. | 2001
- 345
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A splice mutation in the GTP cyclohydrolase I gene causes dopa‐responsive dystonia by exon skippingSkrygan, M. / Bartholomé, B. / Bonafé, L. / Blau, N. / Bartholomé, K. et al. | 2001
- 352
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Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonatesSpaapen, L. J. M. / Bakker, J. A. / Velter, C. / Loots, W. / Rubio‐Gonzalbo, M. E. / Forget, P. P. / Dorland, L. / De Koning, T. J. / Poll‐The, B. T. / Ploos Van Amstel, H. K. et al. | 2001
- 359
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Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuriaArtuch, R. / Colome, C. / Vilaseca, M. A. / Sierra, C. / Cambra, F. J. / Lambruschini, N. / Campistol, J. et al. | 2001
- 359
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Plasma phenylalanine is asociated with decreased serum ubiquine‐10 concentrations in phenylketonuriaArtuch, R. / Colomé, C. / Vilaseca, M. A. / Sierra, C. / Cambra, F. J. / Lambruschini, N. / Campistol, J. et al. | 2001
- 367
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Factor V Leiden mutation in Turkish patients with homozygous cystathionine β‐synthase deficiencyKalkanoğlu, H. S. / Coşkun, T. / Aydoğdu, S. D. / Tokatli, A. / Gürgey, A. et al. | 2001
- 367
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Factor V Leiden mutation in Turkish patients with homozygous cystathionine beta-synthase deficiencyKalkanoglu, H. S. / Coskun, T. / Aydogdu, S. D. / Tokatli, A. / Gurgey, A. et al. | 2001
- 370
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Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometryStadler, S. / Gempel, K. / Bieger, I. / Pontz, B. F. / Gerbitz, K.‐D. / Bauer, M. F. / Hofmann, S. et al. | 2001
- 379
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Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27‐hydroxylase gene (CYP27)Sugama, S. / Kimura, A. / Chen, W. / Kubota, S. / Seyama, Y. / Taira, N. / Eto, Y. et al. | 2001
- 393
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Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR‐RFLP: Culturally permissible testing in the Mennonite communityLove‐Gregory, L. D. / Dyer, J. A. / Grasela, J. / Hillman, R. E. / Phillips, C. L. et al. | 2001
- 404
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Massive 5‐oxoprolinuria with normal 5‐oxoprolinase and glutathione synthetase activitiesRiudor, E. / Arranz, J. A. / Alvarez, R. / Carlsson, K. / del Toro, M. / Salmerón, F. / Piñol, F. / Ristoff, E. / Sentís, M. / Larsson, A. et al. | 2001
- 407
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Sudden death in a Korean infant with very long‐chain acyl‐CoA dehydrogenase deficiencyYoon, H.‐R. / Strauss, A. W. / Yoo, H.‐W. et al. | 2001
- 409
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Ketoacidosis: an unusual presentation of MELASStrachan, J. / McLellan, A. / Kirkpatrick, M. / Hume, R. / Mechan, D. et al. | 2001
- 411
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Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia DDi Rocco, M. / Caruso, U. / Waterham, H. R. / Picco, P. / Loy, A. / Wanders, R. J. A. et al. | 2001
- 413
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Mevalonic aciduria and hyper‐IgD syndrome: Two sides of the same coin?Tsimaratos, M. / Kone‐Paut, I. / Divry, P. / Philip, N. / Chabrol, B. et al. | 2001
- 413
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Mevalonic aciduria and hyper-IgD sundrome: Two sides of the same coin?Tsimaratos, M. / Kone-Paut, I. / Divry, P. / Philip, N. / Chabrol, B. et al. | 2001
- 415
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Gabapentin interference with urine histidine as measured by the Beckman amino acid analyserHoover‐Fong, J. E. / Geraghty, M. T. / Raymond, G. V. / Thomas, G. H. et al. | 2001
- 417
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Compound heterozygosity in four asymptomatic siblings with medium‐chain acyl‐CoA dehydrogenase deficiencyAlbers, S. / Levy, H. L. / Irons, M. / Strauss, A. W. / Marsden, D. et al. | 2001
- 419
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Splenectomy in two siblings with G‐CSF‐dependent glycogen storage disease type IbBoneh, A. / Auldist, A. W. / Francis, D. E. M. / Casanelia, S. / Warwick, L. / Tiedemann, K. et al. | 2001
- 419
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Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type 1bBoneh, A. / Auldist, A. W. / Francis, D. E. / Casanelia, S. / Warwick, L. / Tiedemann, K. et al. | 2001
- 421
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Carnitine‐responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndromeTóth, G. / Morava, É. / Bene, J. / Selhorst, J. J. M. / Overmars, H. / Vreken, P. / Molnár, J. / Farkas, V. / Melegh, B. et al. | 2001
- 423
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Sustained oral lysine supplementation in ornithine δ‐aminotransferase deficiencyElpeleg, O. N. / Korman, S. H. et al. | 2001
- 423
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Sustained oral lysine supplementation in ornithine delta-aminotransferase deficiencyElpeleg, O. N. / Korman, S. H. et al. | 2001
- 427
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Effects of dietary cholesterol restriction in a feline model of Niemann–Pick type C diseaseSomers, K. L. / Brown, D. E. / Fulton, R. / Schultheiss, P. C. / Hamar, D. / Smith, M. O. / Allison, R. / Connally, H. E. / Just, C. / Mitchell, T. W. et al. | 2001
- 437
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The intellectual abilities of early‐treated individuals with pyridoxine‐nonresponsive homocystinuria due to cystathionine β‐synthase deficiencyYap, S. / Rushe, H. / Howard, P. M. / Naughten, E. R. et al. | 2001
- 437
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The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiencyYap, S. / Rushe, H. / Howard, P. M. / Naughten, E. R. et al. | 2001
- 448
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Glycine N‐methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemiaMudd, S. H. / Cerone, R. / Schiaffino, M. C. / Fantasia, A. R. / Minniti, G. / Caruso, U. / Lorini, R. / Watkins, D. / Matiaszuk, N. / Rosenblatt, D. S. et al. | 2001
- 465
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Oxidation of galactose by galactose‐1‐phosphate uridyltransferase‐deficient lymphoblastsYager, C. / Gibson, J. / States, B. / Elsas, L. J. / Segal, S. et al. | 2001
- 465
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Oxidation of galactose by galacose-1-phosphate uridyltransferase-deficient lymphoblastsYager, C. / Gibson, J. / States, B. / Elsas, L. J. / Segal, S. et al. | 2001
- 477
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Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complicationsVan Geet, C. / Jaeken, J. / Freson, K. / Lenaerts, T. / Arnout, J. / Vermylen, J. / Hoylaerts, M. F. et al. | 2001
- 493
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Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue of soybean oilRuiz-Sanz, J. I. / Aldamiz-Echevarria, L. / Arrizabalaga, J. / Aquino, L. / Jimeno, P. / Perez-Nanclares, G. / Sanjurjo, P. et al. | 2001
- 493
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Polyunsaturated fatty acid deficiency during dietary treatment of very long‐chain acyl‐CoA dehydrogenase deficiency. Rescue with soybean oilRuiz‐Sanz, J. I. / Aldamiz‐Echevarria, L. / Arrizabalaga, J. / Aquino, L. / Jimeno, P. / Pérez‐Nanclares, G. / Sanjurjo, P. et al. | 2001
- 504
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CASE REPORT: Early‐onset lysosomal glycogen storage disease with normal acid maltaseDayan, R. M. / Renaud, D. L. et al. | 2001
- 504
-
Early-onset lysosomal glycogen storage disease with normal acid maltaseDayan, R. M. / Renaud, D. L. et al. | 2001
- 507
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CASE REPORT: Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemiaOdièvre, M. / Brivet, M. / Rivière, M‐F. / Labrune, P. et al. | 2001
- 507
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Increased fertility in a woman with classic galactosaemiaKimonis, V. et al. | 2001
- 507
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Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemiaOdievre, M. / Brivet, M. / Riviere, M.-F. / Labrune, P. et al. | 2001
- 509
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A Korean girl with alpha-aminoadipic and alpha-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarateLee, J.-S. / Yoon, H.-R. / Coe, C. J. et al. | 2001
- 509
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CASE REPORT: A Korean girl with α‐aminoadipic and α‐ketoadipic aciduria accompanied with elevation of 2‐hydroxyglutarate and glutarateLee, J‐S. / Yoon, H‐R. / Coe, C. J. et al. | 2001
- 511
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CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSDTomaske, M. / Bosk, A. / Heinemann, M. K. / Sieverding, L. / Baumgartner, E. R. / Fowler, B. / Trefz, F. K. et al. | 2001
- 511
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CblC/D defect combined with haemodynamically highly relevant VSDTomaske, M. / Bosk, A. / Heinemann, M. K. / Sieverding, L. / Baumgartner, E. R. / Fowler, B. / Trefz, F. K. et al. | 2001
- 513
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Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiencyBarshop, B. A. / Nyhan, W. L. / Climent, C. / Rubio, V. et al. | 2001
- 513
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SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiencyBarshop, B. A. / Nyhan, W. L. / Climent, C. / Rubio, V. et al. | 2001
- 515
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PKU adults and their return to diet: Predicting diet continuation and maintenanceFinkelson, L. / Bailey, I. / Waisbren, S. E. et al. | 2001
- 515
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SHORT REPORT: PKU adults and their return to diet: Predicting diet continuation and maintenanceFinkelson, L. / Bailey, I. / Waisbren, S. E. et al. | 2001
- 517
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SHORT REPORT: A common 2 bp deletion mutation in the glucose‐6‐phosphatase gene in Indian patients with glycogen storage disease type IaMeaney, C. / Cranston, T. / Lee, P. / Genet, S. et al. | 2001
- 517
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A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type IaMeaney, C. / Cranston, T. / Lee, P. / Genet, S. et al. | 2001
- 519
-
The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001| 2001
- 523
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Mutation analysis in Turkish patients with hereditary fructose intoleranceDursun, A. / Kalkanoğlu, H. S. / Coşkun, T. / Tokatli, A. / Bittner, R. / Koçak, N / Yüce, A. / Ozalp, I. / Boehme, H.‐J. et al. | 2001
- 527
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Very low‐density lipoprotein apolipoprotein B‐100 turnover in glycogen storage disease type Ia (von Gierke disease)Wierzbicki, A. S. / Watts, G. F. / Lynas, J. / Winder, A. F. / Wray, R. et al. | 2001
- 527
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Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type 1a (von Gierke disease)Wierzbicki, A. S. / Watts, G. F. / Lynas, J. / Winder, A. F. / Wray, R. et al. | 2001
- 535
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Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIIdSugie, H. / Fukuda, T. / Ito, M. / Sugie, Y / Kojoh, T. / Nonaka, I. et al. | 2001
- 546
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Decreased half‐life of insulin‐like growth factor I in Rabson–Mendenhall syndromeLongo, N. / Singh, R. / Elsas, L. J. et al. | 2001
- 551
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A case of PDH‐E1α mosaicism in a male patient with severe metabolic lactic acidosisSeyda, A. / Chun, K. / Packman, S. / Robinson, B. H. et al. | 2001
- 551
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A case of PDH-E~1alpha mosaicism in a male patient with severe metabolic lactic acidosisSeyda, A. / Chun, K. / Packman, S. / Robinson, B. H. et al. | 2001
- 560
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Phenotype variability in 130 adult patients with respiratory chain disordersFinsterer, J. / Jarius, C. / Eichberger, H. / Jaksch, M. et al. | 2001