The molecular basis of late onset VLCAD deficiency (English)
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In:
JOURNAL OF INHERITED METABOLIC DISEASE
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22
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105
;
1999
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ISSN:
- Article (Journal) / Print
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Title:The molecular basis of late onset VLCAD deficiency
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Contributors:Andresen, B. S. ( author ) / Olpin, S. E. ( author ) / Pourfarzam, M. ( author ) / Corydon, T. J. ( author ) / Vaney-Saban, C. ( author ) / Schaefer, J. ( author ) / Lund, H. ( author ) / Ugarte, M. ( author ) / Schroeder, L. D. ( author ) / Poorthuis, B. ( author )
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Published in:JOURNAL OF INHERITED METABOLIC DISEASE ; 22 ; 105
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Publisher:
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Publication date:1999-01-01
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Size:105 pages
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ISSN:
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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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Table of contents – Volume 22
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.
- 1
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PKU treatment beyond childhood. The use of positron emission tomography (PET) to design a well-balanced treatmentVan Spronsen, F. J. / Paans, A. M. J. / Willemsen, A. T. M. / Smit, G. P. A. et al. | 1999
- 1
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3‐Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic diseaseShoji, Y. / Takahashi, T. / Sawaishi, Y. / Ishida, A. / Matsumori, M. / Shoji, Ya. / Enoki, M. / Watanabe, H. / Takada, G. et al. | 1999
- 1
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Blood-brain phenylalanine relationships in adults with phenylketonuriaMoats, R. / Guttler, F. / Koch, R. et al. | 1999
- 1
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Abstracts ‐ SSIEM 37th Annual Symposium| 1999
- 2
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A three center study on the effects of long-term treatment on the vascular outcome of patients with homocystinuria due to cystathionine -synthase deficiencyYap, S. / Boers, G. H. J. / Wilcken, B. / Wilcken, D. E. L. / Naughten, E. R. et al. | 1999
- 2
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Osteoporosis and pathological features: a complication in pyridoxine-resistant homocystinuric adult patientsParrot, F. / Redonnet-Vernhet, I. / Lacombe, D. / Gin, H. et al. | 1999
- 3
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Patient satisfaction with a 'carry over care' adult metabolic clinicFletcher, J. M. / McBey, C. / Chapman, I. M. et al. | 1999
- 3
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Long-term outcome of patients with glycogen storage disease type I: first results of the European study on glycogen storage disease type IRake, J. P. / Visser, G. / Smit, G. P. A. et al. | 1999
- 4
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Inborn errors of metabolism in adults in France - a national prospective studyNuoffer, J. M. / Baumgartner, M. / Detournay, B. / Delonlay, P. / Nassogne, M. C. / Touati, G. / Saudubrav, J. M. et al. | 1999
- 4
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Incidence of inborn errors of metabolism in the Italian populationDionisi-Vici, C. / Rizzo, C. / Caruso, U. / Cerone, R. / Gatti, R. / DiRocco, M. / Burlina, A. B. / Uziel, G. / Sabetta, G. / Abeni, D. et al. | 1999
- 5
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Ureidopropionase deficiency: a novel inborn error of metabolism discovered with NMR spectroscopyMoolenaar, S. H. / Goehlich-Ratmann, G. / Assmann, B. / Engelke, U. / Braeutigam, C. / Van Gennip, A. H. / De Jong, J. G. N. / Voit, T. / Hoffmann, G. F. / Vreken, P. et al. | 1999
- 5
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Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolismMayatepek, E. / Zelezny, R. / Lehmann, W. D. / Flock, B. / Lindner, M. / Hammond, J. W. et al. | 1999
- 6
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Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disordersGregersen, N. / Bross, P. / Jorgensen, M. / Corydon, T. J. / Andresen, B. S. et al. | 1999
- 6
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Clinical, biochemical and molecular delineation of a new subtype of carbohydrate deficient glycoprotein syndrome: CDGS type ICGruenewald, S. / Imbach, T. / De Rijk-Van Andet, J. / De Klerk, H. / Smeitink, J. / Jaeken, J. / Wevers, R. et al. | 1999
- 7
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Exercise induced hypoglycemia: a new form of congenital hyperinsulinismMeissner, T. / Feneberg, R. / Beinbrech, B. / Apostolidou, S. / Schaefer, F. / Maratepek, E. et al. | 1999
- 7
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Epilepsy with preprandial seizures and retardation: the first European families with glucose- transporter-1-deficiencyKorenke, G. C. / Brockmann, K. / Von Moers, A. / Weise, D. / Ktepper, J. / De Vivo, D. C. / Hanefeld, F. et al. | 1999
- 8
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UDP-galactose 4-epimerasc deficiency: multiple variants with variable clinical coursesShin, Y. S. / Korenke, G.-C. / Huppke, P. / Knerr, I. / Podskarbi, T. et al. | 1999
- 8
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Hepatic storage of glycogen in Niemann-Pick disease type BSmith, W. / Fruxh, D. / Milov, D. J. / Kahler, S. G. / Chert, Y. T. et al. | 1999
- 9
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Mevalonic aciduria in 10 unrelated patients with hyperimmunoglobinemia D and periodic fever syndromePoll-The, B. T. / De Koning, T. J. / Duran, M. / Kuis, W. / Frenkel, J. / Houten, S. M. / Van Royen-Kerkhof, A. / Rijkers, G. T. / Romeijn, G. J. / Dorland, L. et al. | 1999
- 9
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Identification of new medium‐chain acylcarnitines present in urine of a patient with medium‐chain acyl‐CoA dehydrogenase deficiencyLibert, R. / Van Hoof, F. / Thillaye, M. / Vincent, M.‐F. / Nassogne, M.‐C. / Stroobant, V. / de Hoffmann, E. / Schanck, A. et al. | 1999
- 9
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Therapy of X-linked adrenoleukodystrophy. Plans for it multicenter trialMoser, H. / Bezman, L. / Raymond, G. / Shou-En-Lu et al. | 1999
- 10
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A new syndrome with familial psychomotor retardation, movement disorder, generalized hypotonia, increased serum phytanic acid and lysosomal inclusionsJaeken, J. / Cruz, F. / De Vos, R. / Jacobs, C. / Lagae, L. / Van Geet, C. et al. | 1999
- 10
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Liver transplantation in a 6-month-old patient with a peroxisomal biogenesis defect: preliminary encouraging resultsVan Maldergem, L. / Sokal, E. / Reding, R. / Maernoudt, A.-S. / Vincent, M.-F. / Lerut, J. / Gillerot, Y. / Otte, J.-B. et al. | 1999
- 11
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Purification and molecular cloning of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme that catalyzes the carbon-carbon bond cleavage during xi-oxidation of 3-methyl- branched fatty acidsFoulon, V. / Antonenkov, V. D. / Croes, K. / Baes, M. / Amery, L. / Waelkens, E. / Mannerts, G. P. / Van Veldhoven, P. P. / Castells, M. et al. | 1999
- 11
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Mutated adrenoleukodystrophy protein can act negatively transdominant over adrenoleukodystrophy wildtype proteinBerger, J. / Unterrainer, G. / Netik, A. / Molzer, B. / Forss-Petter, S. et al. | 1999
- 12
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Molecular basis of Zellweger syndrome and the other disorders of peroxisome biogenesis: identification of the mutant PEX-gene in 145 patients using complementation analysis followed by DNA-analysisWanders, R. J. A. / Mooijer, P. A. W. / Dekker, C. / Birth, P. G. / Fujiki, Y. / Suzuki / Shinozawa, T. et al. | 1999
- 12
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Identification of unusual bile acid metabolites by tandem mass spectrometry: use of low-energy collision induced dissociation to produce informative spectraLemonde, H. A. / Johnson, A. W. / Clayton, P. T. et al. | 1999
- 13
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A stop-codon mutation in the mtDNA COX I gene disrupts the assembly of the respiratory chitin complex IVBruno, C. / Martinuzzi, A. / Tang, Y. / Andreu, A. L. / Pallotti, F. / DiMauro, S. / Manfreedi, G. et al. | 1999
- 13
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Cytochrome c oxidase deficiency caused by SURF1 mutations shows relative sparing of cognitive functionThorburn, D. R. / Hutchison, W. M. / Reed, K. J. / Kirhy, D. M. / White, S. L. / Boneh, A. / Dahl, H.-H. M. et al. | 1999
- 14
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Upregulation of respiratory chain enzymes in GAMT-deficiencyDis, A. M. / Isbrandt, D. / Ullrich, K. et al. | 1999
- 14
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Isolated enzymatic human mitochondrial complex I deficiencies in children caused by structural nuclear gene mutationsLoeffen, J. / Van den Heuvel, B. / Triepels, R. / Schuelke, M. / Budde, S. / Coenen, M. / Smeets, R. / Buskens, C. / Janssen, A. / Senbers, R. et al. | 1999
- 15
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LCHAD-deficiency: clinical presentation and follow-up of 50 patientsDen Boer, M. E. J. / Wanders, R. J. A. / Morris, A. A. / IJlst, L. / Heymans, H. S. A. / Wijburg, F. A. et al. | 1999
- 15
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Complementation analysis of six patients with il detect of long-chain fatty acid transport m fibroblastsRinaldo, P. / Al Odaib, A. / Bennett, M. J. et al. | 1999
- 16
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2-Methylbutyrylglycinuria in a neonate with CNS dysfunction: evidence for isolated 2-methylbutyryl-CoA dehydrogenase deficiency, an inborn error of L-isoleucine metabolismGibson, K. M. / Sacks, M. / Kiss, D. / Pohowalla, P. / Linck, L. / Steiner, R. D. / Burlingame, T. et al. | 1999
- 16
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SURF-1 mutations in Leigh disease with cytochrome-c oxidase deficiencyUziel, G. / Moroni, I. / Lamantea, E. / Tiranti, V. / Zeviani, M. et al. | 1999
- 17
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Impaired synthesis of monaminergic neurotransmitters in early myoclonic encephalopathyHoffmann, G. F. / Braeutigam, C. / Aksu, F. / Kuehl, P. G. / Schulte-Wissermann, H. / Blau, N. et al. | 1999
- 17
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Molecular basis of dihydropteridine reductase (DHPR) deficiency: report of 5 new mutations and phenotype genotype correlationDe Sanctis, L. / Ponzone, A. / Blau, N. / Alliaudi, C. / Cerone, R. / Smooker, P. M. / Cotton, R. G. H. / Dianzani, I. et al. | 1999
- 18
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Confusing CSF neurochemical picture suggesting 6-pyruvoyletrahydropterin synthase deficiency in neonates with probable hypoxic-ischemic encephalopathyHyland, K. / Peterschmitt, M. J. / Soul, J. S. / Korson, M. S. / Gascon, G. / Gibson, J. B. / Steiner, R. D. / Arnold, L. A. et al. | 1999
- 18
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Mutation analysis in Danish patients with dopa-responsive dystoniaRomstad, A. / Guldberg, P. / Guettler, F. et al. | 1999
- 19
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The human NADH:ubiquinone oxidoreductase NDUFS5 (15kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I‐deficient patientsLoeffen, J. / Smeets, R. / Smeitink, J. / Triepels, R. / Sengers, R. / Trijbels, F. / van den Heuvel, L. et al. | 1999
- 19
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SURF1 mutations in cytochrome oxidase-deficient Leigh disease: two prevalent mutations, one with a common genetic originBrown, R. M. / Humphreys, C. P. A. / Dorricott, H. D. / Sage, E. K. / Slater, J. H. / Brown, G. K. et al. | 1999
- 19
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DNA alterations in mitochondrial (MT) tRNA genesSeneca, S. / De Meirleir, L. / Van Coster, R. / Lissens, W. / Liebaers, I. et al. | 1999
- 20
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Validation of analytical methods and preanalytical conditions for assessment of enzymes of ketone body utilization in human lymphocytesSass, J. O. / Raffelsberger, M. et al. | 1999
- 20
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Enzymatic evaluation of electron transport chain (ETC): the skeletal muscle mice as an useful alternative for the normal human control tissuePaschini-Capra, A. / Giner-Ayala, A. / Angaroni, C. J. / Oller-Ramirez, A. / Grosso, C. / Dodelson-Kremer, R. et al. | 1999
- 21
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Fibreblasts with oxidative disorders are selectively killed when cultured in galactose medium: an easy screening test for mitochondrial diseasesMargollicci, M. / Grosso, S. / Balestri, P. et al. | 1999
- 21
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Diffuse leukodystrophy in patients with mitochondrial disordersMoroni, I. / Bizzi, A. / Bugiani, M. / Lamantea, E. / Uziel, G. et al. | 1999
- 22
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Genotype-phenotype correlation in patients with mitochondriocytopathiesRubio-Gozalbo, M. E. / Dijleman, K. P. / Van den Heuvel, L. P. / Sengers, R. C. A. / Wendel, U. / Smeitink, J. A. M. et al. | 1999
- 22
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Clinical, biochemical, pathological and molecular features of mitochondrial DNA depletion syndrome - 7 casesFeigenbaum, A. / Vu, T. / Taylor, G. / Shoubridge, E. / Robinson, B. / Applegarth, D. / Davidson, G. / Di Mauro, S. / Taanman, J. et al. | 1999
- 23
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Resting lactate and pyruvate production in patients with a mitochondrial respiratory chain defectRoef, M. J. / Reijngoud, D. J. / Straver, H. / Berger, R. / De Meer, K. et al. | 1999
- 23
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Cytochrome c oxidase inhibition by cis-4-decenoic acid (C~1~0~:~1). An important mechanism in medium chain acyl CoA dehydrogenase (MCAD) deficiency?Sharpe, M. A. / Clark, J. B. / Heales, S. J. R. et al. | 1999
- 24
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Clinical variability in mtDNA TG-8993 mutationPineda, M. / Vernet, A. / Vilaseca, M. A. / Poo / Artuch, R. / Briones, P. / Colomer, J. / Playan, A. / Montoya, J. et al. | 1999
- 24
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Thiamine-responsive pyruvate dehydrogenase complex (PDHc) deficiency: a difficult diagnosisDi Rocco, M. / Doria Lamba, L. / Caruso, U. / Naito, E. et al. | 1999
- 25
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Maternally inherited mutation (A3243G) of mitochondrial DNA (MELAS mutation) associated with a clinical phenotype of 'Barth-like syndrome'Bacman, S. / Argarana, C. / Noher de Halac, I. / Pasquini-Capra, A. / Guelbert, N. / Civallero, G. / Giner-Ayala, A. / Oller-Ramirez, A. / Angaroni, C. / Latini, A. et al. | 1999
- 25
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Clinical and neuropathological study in familial infantile leukodystrophy with complex Il deficiencyPiemonte, F. / Dionisi-Vici, C. / Patrono, C. / Tessa, A. / Carrozzo, R. / Boldrini, R. / Fariello, G. / Rizzo, C. / Boesplug-Tanguy / Santorelli, F. M. et al. | 1999
- 26
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Identification of a MELAS patient presenting as intestinal occlusionGuardamagna, O. / Spada, M. / Bondone, C. / Sacchetti, C. / Battistoni, G. / Jarre, L. / Lamantea, E. / Carrara, F. / Zeviani, M. et al. | 1999
- 26
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A case of a mitochondrial DNA re-arrangement detected by long range PCR but not by Southern blotting analysisGray, R. G. F. / Davies, P. / Poulton, K. / Ellis, S. et al. | 1999
- 27
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Human 2-methylacyl-CoA racemase is targeted to peroxisomes via its C-terminal tripeptide ASLVan Veldhoven, P. P. / Amery, L. / Brys, V. / Mannaerts, G. P. et al. | 1999
- 27
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Marked elevation of dopamine and serotonin metabolites associated with cytochrome oxidase deficiencyHeales, S. J. R. / Kirkup, J. E. / Hargreaves, I. P. / Lynch, B. J. et al. | 1999
- 28
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Supplementation with docosahexaenoic acid does not improve health of peroxisome deficient miceVan Veldhoven, P. P. / Janssen, A. / Declercq, P. / Baes, M. et al. | 1999
- 28
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Analysis of the third and fourth step of -oxidation of 3-methyl-branched fatty acids in livers from a Zellweger patient and from Zellweger miceCasteels, M. / Croes, K. / Foulon, V. / Baes, M. / Van Veldhoven, P. P. / Mannaerts, G. P. et al. | 1999
- 29
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Transport of phytanic acid on lipoproteins in Refsum diseaseWierzbicki, A. S. / Sankaralingam, A. / Lumb, P. J. / Hardman, T. C. / Sidey, M. C. / Gibberd, F. B. et al. | 1999
- 29
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Peroxisomal thiolase immunolocalisation in RCDP liver and fibroblastsRoels, F. / Mandel, H. / Espeel, M. / Wanders, R. J. A. / Kerckaert, I. / Gaertner, J. et al. | 1999
- 29
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Hepatic peroxisomes in isolated hyperpipecolic acidemia justify its classification as single peroxisomal enzyme deficiencyKerckaert, I. / Poll-The, B. T. / Wanders, R. J. A. / Espeel, M. / Roeleveld, A. B. C. / Roels, F. et al. | 1999
- 30
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Neurlogical dysfunction and epilepsy in delayed onset peroxisome biogenesis disordersSpada, M. / Malandra, A. / Caruso, U. / Baglieri, S. / Battistoni, G. / Peduto, A. / Roasio, L. / Vigliano, P. et al. | 1999
- 30
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Biological diagnosis of primary hyperoxaluria type 1: our experience in glycolate measurement and AGT activity and immunoreactivityRolland, M. O. / Divry, P. / Dumontel, C. / Cochat, P. et al. | 1999
- 31
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Analysis of plasmalogens using electrospray tandem-mass spectometry and its application in screening for peroxisomal disordersValianpour, F. / Vreken, P. / Overmars, H. / Barth, P. G. / Selhorst, J. / Wanders, R. J. A. / Van Gennip, A. H. et al. | 1999
- 31
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Mononuclear cells in biochemical control of X-linked adrenoleukodystrophy treatments: BMT and lovastatinGiros, M. / Ruiz, M. et al. | 1999
- 32
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Perturbation of PKC sub-type activation in X-ALD fibroblasts: possible involvement of PKC in the pathogenesis of adrenoleukodystrophyBoneh, A. / Ben Yaacov, A. et al. | 1999
- 32
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Mutation analysis of human PEX 1, responsible for complementation group 1 of the peroxisomal biogenesis disordersDodt, G. / Walter, C. / Mooijer, P. A. / Portsteffen, H. / Barth, P. G. / Kunau, W.-H. / Wanders, R. J. A. et al. | 1999
- 33
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Peroxisomal fatty acid oxidation disorders and peroxisomal branched-chain -ketothiolase: activity measurements in liver and fibroblasts using a newly developed methodFerdinandusse, S. / Denis, S. / Van Berkel, E. / Dacremont, G. / Wanders, R. J. A. et al. | 1999
- 33
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Phytanic acid -oxidation: identification of the genomic structure of the phytanoyl-CoA hydroxylase geneJansen, G. A. / Hogenhout, E. M. / Jakobs, C. / Wanders, R. J. A. et al. | 1999
- 34
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Mutations in the gene encoding mevalonate kinase cause hyperimmunoglobulinemia D and periodic fever syndromeHouten, S. M. / Kuis, W. / De Koning, T. J. / Duran, M. / Van Royen-Kerkhof, A. / Romeijn, G. J. / Dorland, L. / De Baise, M. M. J. / Huijbers, W. A. R. / Rijkers, G. T. et al. | 1999
- 34
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Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesisHouten, S. M. / Romeijn, G. J. / Koster, J. / Gray, R. G. F. / Darbyshire, P. / Smit, G. P. A. / De Klerk, J. B. C. / Duran, R. / Gibson, K. M. / Wanders, R. J. A. et al. | 1999
- 35
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Characteristic urine organic acid profile in peroxisomal biogenesis disorders (PBD)Korman, S. H. / Mandel, H. / Gutman, A. et al. | 1999
- 35
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Phytanic acid -oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomesJansen, G. A. / Verhoeven, N. M. / Denis, S. / Romeijn, G.-J. / Jakobs, C. / Ten Brink, H. J. / Wanders, R. J. A. et al. | 1999
- 36
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Synthesis of unlabelled and D~3-labelled DHCA and THCATen Brink, H. J. / Schuit, R. C. / Jakobs, C. et al. | 1999
- 36
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Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiencyVan Grunsven, E. G. / Mooijer, P. A. W. / Aubourg, P. / Wanders, R. J. A. et al. | 1999
- 37
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Mutation analysis in tour Czech X-linked adrenoleukodystrophy familiesDvorakova, L. / Storkanova, G. / Hrebicek, M. / Kmoch, S. / Zeman, J. et al. | 1999
- 37
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The molecular basis of transferase galactosaemia in South African negroidsManga, N. / Jenkins, T. / Jackson, H. / Whittaker, D. A. / Lane, A. B. et al. | 1999
- 37
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-Methylacyl-CoA racemase may partially restore bite acid formation in patients with peroxisomal MFE-2 defectCuebas, D. / Schmitz, W. / Conzelmann, E. / Hiltunen, K. / Novikov, D. et al. | 1999
- 38
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Ketoacidosis in a patient with glycogen storage disease type IaGarcia, P. / Pinhal, M. / Tiago, J. / Neves, F. / Mirante, A. / Diego, L. et al. | 1999
- 38
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International mutation database for X-linked adrenoleukodystrophyKemp, S. / Moser, H. W. / Wanders, R. J. A. / Smith, K. D. et al. | 1999
- 39
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High prevalence of exon 8 - mutations of glucose-6-phosphate (G6P) trans-locase in German patients with glycogen storage disease 1b (GSD 1b)Santer, R. / Block, G. / Schneppenheim, R. / Eichmann, D. / Wendel, U. / Schaub, J. et al. | 1999
- 39
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Mitochondrial myopathy and merosin-positive dystrophyGrazina, M. M. M. / Diogo, L. / Fernandes, A. I. P. / Oliveira, L. M. / Cabral, A. / Rebelo, O. / Finezu, I. / Oliveira, C. R. et al. | 1999
- 40
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Effect of pancreatin on uncooked cornstarch absorption in patients with glycogen storage disease type Ia (GSD-Ia)Feillet, F. / Bodamer, O. A. F. / Lee, P. J. / Stokes, S. / Leonard, J. V. et al. | 1999
- 40
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Neutropenia, neutrophil dysfunction and inflammatory bowel disease in glycogen storage disease type I non A. Results of the European study on GSD type IVisser, G. / Rake, J. P. / Smit, G. P. A. et al. | 1999
- 41
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Adult patients with GSD 1: prevalence and late complications in North RhineKimmerle, R. / Schuster, M. / Neises, G. / Wendel, U. et al. | 1999
- 41
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The long-term use of granulocyte colony-stimulating factor in glycogen storage disease type I non A. Results of the European study on GSD type IVisser, G. / Rake, J. P. / Smit, G. P. A. et al. | 1999
- 42
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-Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in Italian GM 1-gangliosidosis patients with cardiac involvementMorrone, A. / Bardelli, T. / Donati, M. A. / Giorgi, M. / Caciotti, A. / Di Rocco, M. / Gatti, R. / Parini, R. / Ricci, R. / Taddeucci, G. et al. | 1999
- 42
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Haemostatic abnormalities and lupus anticoagulant activity in patients with Gaucher disease type IBarone, R. / Giuffrida, G. / Musso, R. / Curpinteri, G. / Fiumara, A. et al. | 1999
- 43
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Mutations in the glucose‐6‐phosphatase gene of 53 Italian patients with glycogen storage disease type IaStroppiano, M. / Regis, S. / DiRocco, M. / Caroli, F. / Gandullia, P. / Gatti, R. et al. | 1999
- 43
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The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-AVeiga-Da-Cunha, M. / Gerin, I. / Chen, Y. T. / Lee, P. J. / Leonard, J. V. / Maire, I. / Wendel, U. / Vikkula, M. / Van Schaftingen, E. et al. | 1999
- 43
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The glycogen storage disease type IB gene: structure and analysis of transcripts in different tissues and in leucocytesGerin, I. / Veiga-da-Cunha, M. / Noeel, G. / Van Schaftingen, E. et al. | 1999
- 44
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Glycogen concentration in RBC and mid-face hypoplasia: specific information for preliminary diagnostics of glycogen storage disease type III?Peskova, K. / St'astna, S. / Elleder, M. / Shin, Y. S. / Van Diggelen, O. P. et al. | 1999
- 44
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Gene mutations in Gaucher disease among Spanish pediatric patientsRite, S. / Giraldo, P. / Giralt, M. / Baldellou, A. / Cenarro, A. / Pecovi, M. et al. | 1999
- 45
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Molecular studies and prenatal diagnosis of type I glycogen storage diseases (GSD I)Maire, I. / Bonnet, V. / Dionisi-Vici, C. / Veoga-Da-Cunha, M. / Van Schaftingen, E. et al. | 1999
- 45
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Multimodality evoked potentials in Gaucher diseaseParenti, G. / Perretti, A. / Balbi, P. / Titomanlio, L. / Marzano, M. G. / Andria, G. et al. | 1999
- 46
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Molecular genetic mutation analysis in Hungarian Gaucher's patientsLaszlo, A. / Chabas, A. / Endreffy, E. / Rasko, I. et al. | 1999
- 46
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A novel 1341N mutation in the glucose-6-phosphatase gene in a Malaysian boy with glycogen storage disease type IAPodskarbi, T. / Kuhnle, U. / Hwang, Y. C. / Shin, Y. S. et al. | 1999
- 47
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Type I CDG (carbohydrate deficient protein) syndrome: the Italian experienceDi Rocco, M. / Adami, A. / Burlina, A. / Carrozzi, M. / Dionisi-Vici, C. / Fiumara, A. / Gatti, R. / Parini, R. / Spada, M. et al. | 1999
- 47
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Retrospective diagnosis of CDG syndrome type IbNeele, D. M. / Kneepkens, F. / Verhoeven, N. M. / Jakobs, C. et al. | 1999
- 48
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Carbohydrate-deficient glycoprotein syndrome report of 23 patientsDe Lonlay, P. / Seta, N. / Barrot, S. / Cuer, M. / Durand, G. / Munnich, A. / Saudubray, J. M. / Cormier-Daire, V. et al. | 1999
- 48
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New variants of carbohydrate-deficient glycoprotein syndromePeters, V. / Hackler, R. / Assmann, B. / Vincon, V. / Arndt, T. / Schaefer, J. R. / Hoffmann, G. F. et al. | 1999
- 49
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Studies on wild type and mutated forms of phosphomannomutase 2, the enzyme deficient in carbohydrate-deficient glycoprotein syndrome type IAPirard, M. / Matthijs, G. / Achouri, Y. / Collet, J. F. / Schollen, E. / Gruenewald, S. / Jaeken, J. / Van Schaftingen, E. et al. | 1999
- 49
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CDG: beyond the screenFletcher, J. M. / Matthijs, G. / Jaeken, J. / Nelson, P. et al. | 1999
- 50
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Bone marrow transplantation for Maroteaux–Lamy syndrome (MPS VI): Long‐term follow‐upHerskhovitz, E. / Young, E. / Rainer, J. / Hall, C. M. / Lidchi, V. / Chong, K. / Vellodi, A. et al. | 1999
- 50
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Carbohydrate-deficient glycoprotein syndrome: a marker for aberrant glycosylationFevrier, T. / Clayton, P. / Keir, G. / Mian, N. / Winchester, B. et al. | 1999
- 50
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Coagulation abnormalities in CDGS type 1aCutillo, L. / Caniglia, M. / Sabetta, G. / Cotugno, G. / De Rossi, G. / Pastore, A. / Mazziotta, M. R. M. / Dionisi-Vici, C. et al. | 1999
- 51
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Biochemical and genetic analysis of British CDGS type IA patientsImtiaz, F. / Beesley, C. / Clayton, P. / Keir, G. / Champion, M. / Mian, N. / Worthington, V. / Winchester, B. et al. | 1999
- 51
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Transferrin protein variant mimicking carbohydrate deficient glycoprotein syndrome (CDGS) in trisomy 7 mosaicismKnopf, C. / Rod, R. / Jaeken, J. / Berant, M. / Van Schaftingen, E. / Fryns, J. P. / Zamir, R. / Gershoni, R. / Mandel, H. et al. | 1999
- 52
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Proteomic analyses applied to the study of carbohydrate deficient glycoprotein syndromesMills, K. / Winchester, B. G. / Clayton, P. T. / Johnson, A. W. et al. | 1999
- 52
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Carbohydrate deficient glycoprotein syndrome type lb, diagnosis and response to mannose therapyHendriksz, C. J. / McClean, P. / Henderson, M. J. / Keir, G. / Worthington, V. C. / Imtiaz, F. / Winchester, B. et al. | 1999
- 53
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Plasma protein profiles in carbohydrate deficient glycoprotein syndromesMills, K. / Johnson, A. W. / Clayton, P. T. / Winchester, B. G. et al. | 1999
- 53
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Renal investigation in 12 patients with CDGS, 10 with type IA and 2 with type IBDe Lonlay, P. / Hert-Pannier, L. / Dechaux, M. / Nassogne, M. C. / Salomon, R. / Niaudet, P. / Brunelle, F. / Sera, N. / Saudubray, J. M. et al. | 1999
- 54
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Brain phenylalanine as predictor of clinical outcome and determinant for dietary therapyGiudici, T. / Blaskovics, M. E. / Moats, R. / Koch, R. / Stern, A. / Boles, R. / Nelson, M. D. et al. | 1999
- 54
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Alanine prevents the decrease of Na^+,K^+-ATPase activity in brain of hiperphenylalaninemic ratsWyse, A. T. S. / Wajner, M. / Peixoto, P. F. / Noriler, M. E. / Borges, L. F. / Wannmacher, C. M. D. et al. | 1999
- 55
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Aspartame loading test in PKU heterozygotes bearing severe and moderate mutationsGiugliani, R. / Silva, L. C. S. / Carvalho, T. / Silva, F. / Pires, R. F. / Pereira, M. L. et al. | 1999
- 55
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Audit risks of the MPKU syndrome in New South WalesWilcken, B. / Mowat, D. / Haydon, M. / Thompson, S. et al. | 1999
- 56
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Neurotransmitters evaluation in early-treated phenylketonuric patientsBurlina, A. B. / Bonafee, L. / Ferrari, V. / Suppiej, A. / Zacchello, F. / Burlina, A. P. et al. | 1999
- 56
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Structure-function relationships in phenylalanine hydroxylase: effect of two point mutations on protein foldingGamez, A. / Perez, B. / Desviat, L. R. / Ugarte, M. et al. | 1999
- 57
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Influence of different phenylalanine hydroxylase mutations on phenylalanine (PHE) and tyrosine (TYR) metabolism in phenylketonuria (PKU) heterozygotesRottoli, A. / Gianni, M. L. / Colombo, L. / Giroli, M. / Verduci, E. / Riva, E. et al. | 1999
- 57
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Relationship between genotype and metabolic phenotype in Italian patients affected by hyperphenylalaninemiaGamboni, A. / Rottoli, A. / Verduci, E. / Turri, O. / Vennari, A. / Bernardo, L. / Giovannini, M. et al. | 1999
- 58
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The V388M mutation in phenylalanine hydroxylase (PAH) gene: kinetic variant with reduced affinity for BH~4Leandro, P. / Rivera, I. / Lechuer, M. C. / Tavares de Almeida, I. / Konecki, D. S. et al. | 1999
- 58
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Glucose intolerance in adults with phenylketonuriaFrancois, B. / Diels, M. et al. | 1999
- 59
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The derangement of event-related potential in phenylketonuriaLeuzzi, V. / Seri, S. et al. | 1999
- 59
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Phenylalanine tolerance in phenylketonuria. Kinetic analysis and genotype-phenotype correlation in 20 patientsLaugenbeck, U. / Ammar, M. / Zschocke, J. / Solem, E. / Knerr, I. M. / Herwig, J. / Boehles, H. et al. | 1999
- 60
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Clinical significance of brain PHE concentration assessed by in vivo protein magnetic resonance (^1H MRS) in phenylketonuriaLeuzzi, V. / Bianchi, M. C. / Tosetti, M. / Carducci, C. / Antonozzi, I. et al. | 1999
- 60
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Atypical form of PTPS deficiency in a Sicilian family with double consanguinityMeli, C. / Mollico, F. / Garozzo, R. / Monaco, V. / Chiara, G. / Blau, N. et al. | 1999
- 61
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BH~4 deficiency caused by hemizygosity due to de novo deletion of 11q and a maternally mutant allele of 6-pyruvoyl-tetrahydropterin synthase (PTPS)Blau, N. / Scherer-Oppliger, T. / Baumer, A. / Schinzel, A. / Jacken, J. / Matasovic, A. / Thoeny, B. et al. | 1999
- 61
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Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of BH~4 deficiencyThoeny, B. / Laufs, S. / Kim, S. H. / Kim, S. / Blau, N. et al. | 1999
- 62
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Deprenyl in the treatment of patients with tetrahydrobiopterin deficiency (BH~4) deficienciesSchuler, A. / Kalmanchey, R. / Barsi, P. / Somogyi, C. / Toeroes, I. / Varadi, I. / Kovacs, A. / Blau, N. et al. | 1999
- 62
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Acute BH~4 administration corrects the brain NO/cGMP pathway in the GTP-cyclohydrolase I deficient mouse: implications for dopa-responsive dystoniaCanevari, L. / Land, J. M. / Clark, J. B. / Heales, S. J. R. et al. | 1999
- 63
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Severe skeletal complications in Japanese patients with type 1 Gaucher diseaseIda, H. / Rennert, O. M. / Kato, S. / Ueda, T. / Oishi, K. / Maekawa, K. / Eto, Y. et al. | 1999
- 63
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Biochemical control in phenylketonuria: what is achievable?Walter, J. H. / White, F. J. et al. | 1999
- 63
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Impaired nitric oxide generation leads to increased glyceraldehyde-3-phosphate dehydrogenase activity in the tetrahydrobiopterin deficient mouse brainHeales, S. J. R. / Brand, M. P. / Barker, J. E. et al. | 1999
- 64
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Reduced Na^+,K^+-ATPase in erythrocyte membranes from patients with phenylketonuriaBedin, M. / Estrella, C. H. G. / Ponzi, D. / Duarte, D. V. / Wajner, M. / Wyse, A. T. S. / Dutra-Filho, C. S. / Wannmacher, C. M. D. et al. | 1999
- 64
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The early couse of phenylalanine and phenylalanine-tyrosine ratio in a PKU newbornSchulze, A. / Schmidt, H. / Frommhold, D. / Mayatepek, E. et al. | 1999
- 65
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EEG study in 66 cases of classical phenylketonuriaBiancheri, R. / Perrone, M. V. / Grosso, P. / Dapelo, M. T. / Cerone, R. / Schiaffino, M. C. / Veneselli, E. et al. | 1999
- 65
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Ubiquinone-10 in phenylketonuriaArtuch, R. / Colome, C. / Moreno, J. / Quintana, M. / Puig, R. M. / Campistol, J. / Vilaseca, M. A. et al. | 1999
- 66
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Molecular analysis of the phenylalanine hydroxilase gene in Sardinian phenylketonuric patientsLampis, R. / Lilliu, F. / Contini, L. / Gaviano, F. / De Virgiliis, S. et al. | 1999
- 66
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Outcome of 34 adolescent and adult phenylketonuric patientsMartinez-Pardo, M. / Garcia, M. J. / Castro, M. / Perez, B. / Desviat, L. R. / Ugarte, M. et al. | 1999
- 67
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Molecular analysis of PKU patients in Calabria, a region of southern ItalyStrisciuglio, P. / Bonapace, G. / Concolino, D. / Mussari, A. et al. | 1999
- 67
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Alkaptonuria in adult patientsBarrientos, Z. / De Valk, H. W. / Erkelens, D. W. / Kruize, A. A. / Poll-The, B. T. et al. | 1999
- 68
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Mutations of the SLC7A7 gene in lysinuric protein intoleranceSebastio, G. / Sperandeo, M. P. / Bassi, M. T. / Riboni, M. / Parenti, G. / Buoninconti, A. / Manzoni, M. / Incerti, B. / Larocca, M. R. / Passariello, A. et al. | 1999
- 68
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Citrulline-induced argininosuccinic aciduriaShih, V. E. / Mandell, R. et al. | 1999
- 69
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Ornithine aminotransferase deficiency: difficulties in diagnosis in the neonatal periodCleary, M. A. / Sivakumar, P. / Olpin, S. / Wraith, J. E. / Walter, J. H. / Till, J. / Morris, A. A. / Besley, G. T. N. et al. | 1999
- 69
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Hyperprolinaemia type II - a pyridoxine-dependent disorder?Walker, V. / Mills, G. A. / Peters, S. A. / Merton, W. L. et al. | 1999
- 70
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Molecular diagnostics of carbamoyl phosphate synthetase deficiency by analysis of illegitimate transcriptsRapp, B. / Linnebank, M. / Homberger, A. / Winter, C. / Marquardt, T. / Koch, H. G. et al. | 1999
- 70
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Different transcripts of the human methylene-tetrahydrofolate reductase (MTHFR) geneHomberger, A. / Linnebank, M. / Rapp, B. / Winter, C. / Koch, H. G. et al. | 1999
- 71
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Evidence for highly variable splicing of the human arginino succinate Iyase gene and two novel mutationsLinnebank, M. / Rapp, B. / Homberger, A. / Winter, C. / Marquardt, T. / Koch, H. G. et al. | 1999
- 71
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Whole body leucine oxidation (WBLO) in patients with classical and variant form of maple syrup urine disease (MSUD)Bodner-Leidecker, A. / Hammen, H.-W. / Wendel, U. / Schadewaldt, P. et al. | 1999
- 72
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L-DOPA responsiveness in aromatic L-amino acid deficiency: biochemical and clinical findings in two patientsBrauetigam, C. / Wevers, R. A. / Hyland, K. / Sharma, R. K. / Knust, A. / Hoffmann, G. F. et al. | 1999
- 72
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Decreased neuronal network activity by leucine and -ketoisocaproate in maple syrup urine disease (MSUD)Goertz, P. / Siebler, M. / Schwahn, B. / Koeller, H. / Wendel, U. et al. | 1999
- 73
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Carbamylphosphate synthetase deficiency in a 14-year-old girl revealed by headache, lethargy and muscular painNassogne, M. C. / De Lonlay, P. / Hertz-Panier, L. / Rabier, D. / Touati, G. / Wermuth, B. / Saudubray, J. M. et al. | 1999
- 73
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Abnormal behaviour of uroporphyrinogen III synthase (UROIIIS) in hereditary tirosinaemia type I (HTTI) and transferase deficiency galactosemia (TDG)Depetris-Boldini, C. / Videla, M. P. / Antonozzi, S. / De Kremer-Dodelson, R. et al. | 1999
- 74
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Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatients clinicsOhura, T. / Abukawa, D. / Shiraishi, H. / Yamaguchi, A. / Arashima, S. / Tada, H. K. / Iinuma, K. et al. | 1999
- 74
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Ornithine transcarbamilase gene mutations in Italian OTCD male patients and manfesting carriers using lymphocytes mRNA analysisGiorgi, M. / Morrone, A. / Donati, M. A. / Funghini, S. / Bisanzi, S. / Bardelli, T. / Parenti, G. / Biasucci, G. / Zammarchi, E. et al. | 1999
- 74
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Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinicsOhura, T. / Abukawa, D. / Shiraishi, H. / Yamaguchi, A. / Arashima, S. / Hiyamuta, S. / Tada, K. / Iinuma, K. et al. | 1999
- 74
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Treatment and long-term outcome of 26 MSUD Italian patientsSalera, S. / Parini, R. / Vizziello, P. / Adami, A. / Andria, G. / Balestri, P. / Carnevale, F. / Cerone, R. / Clerici Bagozzi, D. / Corbetta, C. et al. | 1999
- 75
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Results with different dialytic modalities m neonatal hyperammonemic comaBartuli, A. / Picca, S. / Rizzo, C. / Bevivino, E. / Cotugno, G. / Sabetta, G. / Dello Strologo, L. / Dionisi-Vici, C. et al. | 1999
- 75
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Oral lysine supplementation in HOGA disease a pilot studyPeltola, K. / Heinonen, O. J. / Naentoe-Salonen, K. / Pulkki, K. / Simell, O. et al. | 1999
- 76
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A patient diagnosed as HHH without HHDorland, L. / Mandel, R. / Hemmes, A. M. / Duran, M. / De Vries, W. B. / Brink, W. / Roeleveld, A. B. C. / De Koning, T. J. / Shih, V. E. / Berger, R. et al. | 1999
- 76
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A puzzling case of nonketotic hyperglycinemia (NKH)Labarthe, F. / Rolland, M. O. / Cantagrel, S. / Barthez, M. / Briault, S. / Ogier de Baulny, H. et al. | 1999
- 77
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Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiencyAbeling, N. G. / Braeutigam, C. / Hoffmann, G. F. / Barth, P. G. / Fiumara, A. / Knust, A. / Wevers, R. A. / Van Gennip, A. H. et al. | 1999
- 77
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The effects of treatment on bone mineral density (BMD) in patients with homocystinuria (HCU) due to cystathionine -synthase (CBS) deficiencyYap, S. / Naughten, E. R. / Corlett, L. / Howard, P. / Irranca, M. / Howard, O. M. / O'Brien, M. / Thornton, P. et al. | 1999
- 78
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2-Hydroxy-3-methylvaleric acid (OMVA) stereoisomers differ in MSUD patients and obligate heterozygotes: possible screening test for carrier detectionBlumenthal, A. / Mamer, O. / Treacy, E. et al. | 1999
- 78
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Frequency of complicated pregnancies in untreated hyperhomocvsteinaemic subjectsWesselink, M. A. / Van Dijk, N. B. / De Valk, H. W. / Huisjes, A. J. M. / Bruinse, H. W. et al. | 1999
- 79
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Homocysteine may elicit oxidative stress: sequestration of cysteine and glutathione from plasma into erythrocytes during methionine loadKozich, V. / Vitova, A. / Svatos, J. / Krijt, J. / Meixnerova, L. / Vackova, M. / Zvarova, J. / Andel, M. et al. | 1999
- 79
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Prolidase deficiency among an Israeli population: clinical and biochemical phenotype and prenatal diagnosisMandel, H. / Abeling, N. / Falik-Zaccai, Z. / Scholten, E. G. / Gutman, A. / Sheiman / Luger, A. / Jaffe, M. / Hechtman, P. / Savoy, P. et al. | 1999
- 80
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Ornithine aminotransferase deficiency presenting with hyper-ammonaemia in a premature newbornWebster, M. / Allen, J. / Rawlinson, D. / Brown, A. / Olpin, S. / Leonard, J. V. et al. | 1999
- 80
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Physiological methylenetetrahydrofolate reductase (MR) assay: residual activity in MR deficiencySuormala, T. / Fowler, B. et al. | 1999
- 81
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Pyloric stenosis in a boy with non‐ketotic hyperglycinaemiaAl‐Essa, M. / Ozand, P. T. et al. | 1999
- 81
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Pyloric stenosis in a boy with non-ketonic hyperglycinaemiaAl-Essa, M. / Ozand, P. T. et al. | 1999
- 81
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Successful pregnancy in a woman with pyridoxin-nonresponsive homocystinuriaVilaseca, M. A. / Lambruschini, N. / Alejo, A. / Cuartero, M. L. / Sant Joan de Deu, H. et al. | 1999
- 81
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Involvement of L-tyrosine in neutrophil activation in a patient with tyrosinemia type IIID'Eufemia, P. / Finacchiaro, R. / Lenti, L. / Celli, M. / Lococo, E. / Carpreso, E. / Tote, J. / Bolgia, L. / Giardini, O. et al. | 1999
- 82
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Nonketotic hyperglycinemia: acute hydrocephalus is associated with a poor prognosisVan Hove, J. L. K. / Rutledge, S. L. / Klishnani, P. et al. | 1999
- 82
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Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181GTopaloglu, A. K. / Sansaricq, C. / Fox, J. E. / Bale, A. E. / Tuchman, M. / Desnick, R. J. et al. | 1999
- 82
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Detection of gene deletions in female patients with ornithine transcarbamylase (OTC) deficiencyCranston, T. / Genet, S. et al. | 1999
- 83
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Adult onset ornithine transcarbamylase deficiency precipitated by sodium valproateEllaway, C. J. / Bennetts, B. / Tuck, R. R. / Wilcken, B. et al. | 1999
- 83
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Total body composition and bone mineral density in a child with hereditary tyrosinemia type I under treatment with NTBCRigante, D. / Ranieri, P. / Holme, E. / Ricci, R. / Caradonna, P. et al. | 1999
- 84
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Novel mutations in the fumarylacetoacetate hydrolase gene in tyrosinemia type 1Arranz, J. A. / Riudor, E. / Pinol, F. / Kozak, L. / Pijackova, A. / Dionisi-Vici, C. / Castello, F. / Sentis, M. et al. | 1999
- 84
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An adult with a non‐neuronopathic form of Niemann_Pick C diseaseFensom, A. H. / Grant, A. R. / Steinberg, S. J. / Ward, C. P. / Lake, B. D. / Logan, E. C. / Hulman, G. et al. | 1999
- 84
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Two novel mutations at the cystathionine -synthase gene of homocystinuric Portuguese patientsCastro, R. / Heil, S. G. / Rivera, I. / Segurado, M. A. P. / Jakobs, C. / Tavares de Alnteida, I. / Blom, H. J. et al. | 1999
- 85
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Molecular characterization of methylmalonate semialdehyde dehydrogenase (MMSDH) deficiencyChambliss, K. L. / Gray, R. G. F. / Rylance, G. / Pollitt, R. J. / Gibson, K. M. et al. | 1999
- 85
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Combined methylmalonic aciduria and homocystinuria: neuroimaging findings in 11 casesBiancheri, R. / Gatti, R. / Cerone, R. / Schiaffino, M. C. / Rossi, A. / Tortori Donati, P. et al. | 1999
- 86
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Aplastic anaemia in association with Kearns_Sayre syndromeLeung, T. F. / Hui, J. / Shoubridge, E. / Li, C. K. / Chik, K. W. / Shing, M. M. K. / Wong, G. W. K. / Yeung, W. L. / Yuen, P. M. P. et al. | 1999
- 86
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Symptomatic isolated glycerol kinase deficiency with normal ^1^4C-glycerol incorporation in fibroblastsSjarif, D. R. / Sperl, W. / Kleijer, W. J. / Ploos Van Amstel, J. K. / Duran, M. / Beemer, F. A. / Poll-The, B. T. et al. | 1999
- 86
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Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment?Zeman, J. / Krijt, J. / Hansikova, H. / Stratilova, L. / Wenchich, L. / Kmoch, S. / Chrastina, P. et al. | 1999
- 87
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I Enzyme kinetic properties of human glutathione synthetase mutantsNjaalsson, R. / Carlsson, K. / Ristoff, E. / Mannervik, B. / Board, P. / Norgren, S. / Larsson, A. et al. | 1999
- 87
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Diagnosis of cobalamin absorption defects - the importance of age related reference ranges for serum vitamin B~1~2Carragher, F. M. / Kirk, J. M. / Barr, D. / Cook, M. K. et al. | 1999
- 88
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Mutation analysis in mutase-deficient methylmalonic aciduriaHeptinstall, L. E. / Garside, H. J. / Till, J. / Walter, J. H. / Wrath, J. E. / Besley, G. T. N. et al. | 1999
- 88
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Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type IIManning, N. J. / Bonham, J. R. / Downing, M. / Edwards, R. G. / Olpin, S. E. / Pollitt, R. J. / Pourfarzam, M. / Sharrard, M. J. / Tanner, M. S. et al. | 1999
- 88
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Biocytin and biotin uptake into transformed cells of the central nervous systemBaur, B. / Suormala, T. / Baumgartner, E. R. et al. | 1999
- 89
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Human mitochondrial acetoacetyl-CoA thiolase: enzyme kinetics and activation by monovalent cations in vitroSass, J. O. / Fukao, T. / Song, X.-Q. / Kondo, N. et al. | 1999
- 89
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Investigation of potential phenotype/genotype correlations in propionic acidemiaPerez-Cerda, C. / Merinero, B. / Rodriguez-Pombo, P. / Perez, B. / Desviat, L. R. / Muro, S. / Richard, E. / Garcia, M. J. / Brioncs, P. / Ribcs, A. et al. | 1999
- 90
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Identification of mutations affecting the - homomeric interaction in propionic acidemia: an approach towards the determination of -PCC functional domainsMuro, S. / Peez, B. / Rodriguez-Pombo, P. / Desviat, L. R. / Perez-Cerda, C. / Ugarte, M. et al. | 1999
- 90
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The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patientsVilarinho, L. / Chorão, R. / Cardoso, M. L. / Rocha, H. / Nogueira, C. / Santorelli, F. M. et al. | 1999
- 90
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Long term total parenteral nutrition her ethylmalonic encephalopathyBurlina, A. B. / Bonafe, L. / Orzali, A. / Giordano, G. / Zacchello, F. / Rinaldo, P. et al. | 1999
- 91
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Fetal therapy in combined methylmalonic aciduria and homocystinuriaSpada, M. / Fowler, B. / Bonetti, G. / Battistoni, G. / Banglieri, S. / Perfetto, F. / Peduto, A. / Ponzone, A. et al. | 1999
- 91
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Molecular basis of glutaric aciduria type I (GAI) in Spanish patientsBusquets, C. / Coll, M. J. / Merinero, B. / Ugarte, M. / Ribes, A. et al. | 1999
- 92
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Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patientsPopowska, E. / Ciara, E. / Rokicki, D. / Pronicka, E. et al. | 1999
- 92
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Elevated glycerol in urine - biochemical and molecular findingsHellerud, C. / Burlina, A. B. / Gabelli, C. / Lindstedt, S. et al. | 1999
- 92
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Long-term outcome in patients with hereditary glutathione synthetase deficiencyRistoff, E. / Njaalsson, R. / Carlsson, K. / Norgren, S. / Larsson, A. et al. | 1999
- 92
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Three novel and one recurrent ornithine carbanoyltransferase gene mutations in Polish patientsPopowska, E. / Ciara, E. / Rokicki, D. / Pronicka, E. et al. | 1999
- 93
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Fatal genetic defect causing Wolman diseaseMayatepek, E. / Seedorf, U. / Wiebusch, H. / Lenhartz, H. / Assmann, G. et al. | 1999
- 93
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Malonic aciduria due to mitochondrial malonyl coenzyme A decarboxylase deficiency: a rare inborn error of metabolismKrishnamoorthy, K. S. / Vianey-Sabin, C. / Shih, V. E. et al. | 1999
- 93
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Molecular basis of methylmalonic semialdehyde dehydrogenase (MMSDH) deficiencyDing, J.-H. / Yang, B.-Z. / Wilkinson, J. K. / Chambliss, K. L. / Roe, C. R. et al. | 1999
- 94
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Glutaric aciduria type I in a patient with intermittent normal profile or urinary organic acidsBeinbrech, B. / Zschocke, J. / Lehnert, W. / Christensen, E. / Hoffmann, G. F. / Mayatepek, E. et al. | 1999
- 94
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Hormonal imbalances in ethylmalonic aciduriaMatern, D. / Kishnani, P. / Chen, Y. T. / Gregersen, N. / Vockey, J. / Millington, D. S. / Amalfitano, A. et al. | 1999
- 95
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Red‐cell thiamine pyrophosphate levels in hypophosphatasiaIqbal, S. J. / Talwar, D. / Davies, T. et al. | 1999
- 95
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Propionic acidemia: utilisation of a cryptic accepter site resulting from a novel splicing mutation in the PCCB geneRodriguez-Pombo, P. / Muro, S. / Perez, B. / Perez-Cerda, C. / Desviat, L. R. / Skladal, D. / Sass, J. O. / Sperl, W. / Suormala, T. / Baumgartner, R. et al. | 1999
- 95
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A new phenotype of pyruvate carboxylase deficiencyBurlina, A. B. / Bonafe, L. / Zachello, F. / Shin, Y. et al. | 1999
- 96
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Multiple aberrantly spliced mRNAs in the 3-hydroxy-3-methylglutaryl CoA lyase (HL) gene produce HL deficiency in a Spanish patientPie, J. / Casals, N. / Gareia, J. J. / Lopez, E. / Aledo, R. / Mir, C. / Perez-Cerda, C. / Merinero, B. / Martinez-Pardo, M. / Sanjurjo, P. et al. | 1999
- 96
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Transient lactic acidemia, high intravenous glucose infusion rate and thiamine deficiency in a small-for-date infant with persistent hypoglycemiaDe Felice, C. / Molinelli, M. / Rizzo, C. / Margollicci, M. A. / Guercio, E. / Filippi, L. / Bagnoli, F. et al. | 1999
- 97
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3-Methylglutaconyl-CoA hydratase deficiency: a new patient with speech retardation as the principal signEnsenauer, R. / Mueller, C. B. / Schwab, K. O. / Gibson, K. M. / Brandis, M. / Lehnert, W. et al. | 1999
- 97
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Eleven novel mutations of the methylmalonyl-CoA mutase in patients with the mut^0 defectMucha, B. / Baumgartner, R. / Vollmer, M. / Hildebrandt, F. / Fuchshuber, A. et al. | 1999
- 98
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A new case of succinyl-CoA: acetoacetate transferase deficiency: favourable course despite very low residual activityMaradin, M. / Fumic, K. / Sarnavka, V. / Begovic, D. / Wanders, R. J. A. / Baric, I. et al. | 1999
- 98
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2-Ketoglutarate dehydrogenase deficiency with intermittent normal excretion of 2-ketoglutaric acidDunckelmann, R. J. / Ebinger, F. / Wanders, R. / Schulze, A. / Rating, D. / Mayatepek, E. et al. | 1999
- 99
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Hypothesis: Molecular water pumps and the aetiology of Canavan disease: A case of the sorcerer's apprenticeBaslow, M. H. et al. | 1999
- 99
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Experiences with neonatal screening for biotinidase deficiency in west HungarySchuler, A. / Somogyi, C. / Varadi, I. / Toeroes, I. / Nagy, A. / Kiss, E. et al. | 1999
- 99
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Microvesicular steatosis in parenchymal fibroblasts and cultured skin fibroblasts of a patient with SCHAD deficiencyRenaud, D. L. / Edwards, V. / Wilson, G. J. / Tein, I. et al. | 1999
- 100
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Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter geneLamhonwah, A.-M. / Tein, I. et al. | 1999
- 100
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Diagnosing disorders of mitochondrial fatty acid oxidation: measuring serum 3-hydroxy-free fatty acids (3-OHFFAS) by isotope dilution GC-MSJones, P. M. / Quinn, R. / Fennessey, P. / Tjoa, S. / Goodman, S. / Fiore, S. / Burlina, A. / Rinaldo, P. / Bennett, M. et al. | 1999
- 101
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Complications of carnitine palmitoyltransferase type I deficiencyOlpin, S. E. / Allen, J. C. / Bonham, J. R. / Clark, S. / Clayton, P. T. / Calvin, J. / Downing, M. / Ires, K. / Jones, S. / Manning, N. J. et al. | 1999
- 101
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Oral sodium 3-hydroxybutyrate, a novel adjunct to treatment for multiple acyl CoA dehydrogenase deficiencyBonham, J. R. / Tanner, M. S. / Polliu, R. J. / Manning, N. J. / Olpin, S. E. / Downing, M. / Robertson, L. / Pourfarzam, M. / Bartlett, K. et al. | 1999
- 102
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Mitochondrial acyl-CoA intermediates of VPA analysed by radio-HPLCSilva, M. F. B. / Romeijn, G. J. / IJlst, L. / Jakobs, C. / Duran, M. / Tavares de Almeida, I. / Wanders, R. J. A. et al. | 1999
- 102
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Successful pregnancy outcome in a woman with argininosuccinate lyase deficiencyMardach, M. R. / Roe, K. / Cederbaum, S. D. et al. | 1999
- 102
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Carnitine acylcarnitine translocase deficiencyNeele, D. M. / Verhoeven, N. M. / Lopriore, E. / Gemke, R. J. B. J. / Roeleveld, A. / Poll-The, B. T. / Wanders, R. J. A. / Jakobs, C. et al. | 1999
- 103
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Molecular basis of carnitine acylcarnitine translocase deficiency in nine patients: a tool for prenatal diagnosisCosta, C. / Costa, J. M. / Slama, A. / Boutron, A. / Mandon, G. / Cordier, M. P. / Vianey-Saban, C. / Legrand, A. / Brivet, M. et al. | 1999
- 103
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Hyperinsulinaemic hypoglycaemia associated with abnormal urine organic acids and blood spot acylcarnitine - a possible link between hyperinsulinsim and fatty acid oxidation disordersHussain, K. / Anysley-Green, A. / Clayton, P. / Krywawych, S. et al. | 1999
- 104
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Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old womanRinaldo, P. / Raymond, K. / Barnes, C. A. et al. | 1999
- 104
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Very-long-chain acyl-coenzyme A dehydrogenase deficiency: monitoring of treatment by carnitine acylcarnitine analysis in blood spotsSpiekerkoetter, U. / Schwahn, B. / Korall, H. / Trefz, F. K. / Wendel, U. et al. | 1999
- 105
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The molecular basis of late onset VLCAD deficiencyAndresen, B. S. / Olpin, S. E. / Pourfarzam, M. / Corydon, T. J. / Vaney-Saban, C. / Schaefer, J. / Lund, H. / Ugarte, M. / Schroeder, L. D. / Poorthuis, B. et al. | 1999
- 105
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Antenatal expression of multiple acyl-CoA dehydrogenase (MAD) deficiencyVianey-Saban, C. / Bouvier, R. / Cochat, P. / Dumoulin, R. / Cordier, M. P. et al. | 1999
- 106
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Very long chain acyl-CoA dehydrogenase deficiency: severe homozygous mutation in a newborn with cardiomyopathy and favourable outcomeTouma, E. H. / Rashed, M. / Vianey-Saban, C. / Sakr, A. / Mikati, M. / Divry, P. / Loiselet, L. / Andresen, B. et al. | 1999
- 106
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Mild persistent ethylmalonic aciduria: identification of a new mutation in the gene for short chain acyl-CoA dehydrogenaseNiezen-Koning, K. E. / Corydon, M. J. / Vianey-Saban, C. / Visser, G. / Bos, T. / Reijngoud, D. J. / Smit, G. P. A. / Gregersen, N. et al. | 1999
- 107
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Plasma profile of free fatty acids for the quick and reliable differential diagnosis of mitochondrial fatty acid oxidation disordersWagner, L. / Menges, H. / Keiner, P. / Hoffmann, G. F. et al. | 1999
- 107
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4,5‐Dimethyl‐3‐hydroxy‐2[5H]‐furanone (sotolone) — The odour of maple syrup urine diseasePodebrad, F. / Heil, M. / Reichert, S. / Mosandl, A. / Sewell, A. C. / Böhles, H. et al. | 1999
- 107
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Carnitine acylcarnitine translocase deficiency: mutation characterization and prenatal diagnosisYang, B.-Z. / Roe, C. R. / Mallory, J. M. et al. | 1999
- 108
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Short-chain acyl-CoA dehydrogenase deficiency: unequivocal identification of SCAD-deficiency using acylcarnitine profiling in fibroblasts and direct enzyme analysisIJlst, L. / Ruiter, J. P. N. / Van den Brink, D. M. / Vreken, P. / Bootsma, A. / Overmars, H. / Van Gennip, A. H. / Corydon, M. J. / Gregersen, N. / Vockley, J. et al. | 1999
- 108
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Diagnosis of CPT II deficiency in skeletal muscleHargreaves, I. P. / Heales, S. J. R. / Olpin, S. / Morgan-Hughes, J. M. / Land, J. M. et al. | 1999
- 109
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Prenatal diagnosis of disorders of fatty acid oxidation using direct enzyme assays, immunoblot analysis, and mutation analyses (direct villi) and acylcarnitine profiling (cultured chorionic villous cells)IJlst, L. / Ruiter, J. P. N. / Ostheim, W. / Denis, S. / Wanders, R. J. A. et al. | 1999
- 109
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Fatty acid oxidation disorders: do tissue specific isoforms exist?McKierman, P. J. / Preece, M. A. / Gray, R. G. F. / Green, A. et al. | 1999
- 110
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Molecular basis of primary carnitine deficiency: identification of two novel mutations in OCTN2Vaz, F. M. / Scholtre, H. R. / Ruiter, J. / Hussaarts-Odijk, L. M. / Rodrigues Pereira, R. / Schweitzer, S. / De Klerk, J. B. C. / Waterham, H. R. / Wanders, R. J. A. et al. | 1999
- 110
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Mutation A985->G in MCAD gene shows low incidence in Estonian populationLillevaeli, H. / Ounap, K. / Margus, K. / Metspalu, A. et al. | 1999
- 111
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Protein catabolism, ketonuria and -oxidation defectsRizzo, C. / Dionisi-Vici, C. et al. | 1999
- 111
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Identification of a novel mutation in the CPT II gene in a child with recurrent myoglobinuriaBado, M. / Bruno, C. / Broda, P. / Masetti, E. / Shanske, S. / Carbone, I. / Sotgia, F. / Minetti, C. / DiMauro, S. et al. | 1999
- 112
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Absent clinical signs in a patient with carnitine-acylcarnitine translocase deficiencyInvernizzi, F. / Ribes, A. / Briones, P. / Taroni, F. / Garavaglia, B. et al. | 1999
- 112
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A new homozygous mutation causing failure of long chain fatty acid -oxidation due to deficiency of the mitochondrial trifunctional proteinSchwab, K. O. / Ensenauer, R. / Uyanik, G. / Schnieders, B. / Lehnert, W. / Wanders, R. J. A. / Brandis, M. et al. | 1999
- 113
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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in BulgariaKremensky, I. et al. | 1999
- 113
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Molecular basis of CPT II deficiency: identification of 9 novel mutationsIJlst, L. / Hendriksen, A. G. J. / Ruiter, J. P. N. / Wanders, R. J. A. et al. | 1999
- 114
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A case of carnitine: acyl CoA translocase deficiencyPreece, M. A. / Hardy, D. T. / Rylance, G. W. / MacDonald, A. / Gray, R. G. F. / Olpin, S. / Green, A. et al. | 1999
- 114
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Methylmalonic acid induces excitotoxic neuronal damage in vitroKoelker, S. / Ahlemeyer, B. / Krieglstein, J. / Hoffmann, G. F. et al. | 1999
- 115
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Holocarboxylase synthetase deficiency: Report of a case with onset in late infancyTouma, E. / Suormala, T. / Baumgartner, E. R. / Gerbaka, B. / Ogier de Baulny, H. / Loiselet, J. et al. | 1999
- 115
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Trigger factors of acute encephalopathy in GA-I: fever and TNF-Koelker, S. / Ahlemeyer, B. / Krieglstein, J. / Hoffmann, G. F. et al. | 1999
- 115
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Functional brain findings in some organic and amino acid disordersAl-Essa, M. / Bakheet, S. / Patay, Z. / Powe, J. / Ozand, P. T. et al. | 1999
- 116
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Glutaric acid inhibits 'in vitro' [^3H] glutamate uptake into rat synaptosomes and synaptic vesiclesPorciuncula, L. O. / Dal-Pizzol, A. / Tavares, R. G. / Emanuelli, T. / Souza, D. O. G. / Wajner, M. et al. | 1999
- 116
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L-2-dehydroxyglutaric aciduria: findings in 4 Turkish patientsHener, G. / Yapici Uecguel, Z. / Sewell, A. / Baykat, T. / Aydinli, N. / Eraksoy, M. / Boehles, H. J. / Demirkol, M. et al. | 1999
- 117
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Confirmation of the enzyme defect in the first case of -alanine synthase deficiencyVan Gennip, A. H. / Van Lenthe, H. / Assmann, B. / Gehlich-Ratmann, G. / Hoffmann, G. F. / Broeutigam, C. / Vreken, P. / Wevers, R. A. / Van Kuilenburg, A. B. P. et al. | 1999
- 117
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Brain MR imaging (MRI), MR spectroscopy (MRS), and TC99M-ethyl-cysteinate dimer single photon emission tomography (TC99MECD-SPET) in Rett syndromeMonti, L. / Cerase, A. / Burroni, L. / Hayek, G. / Zappella, M. / Galluzzi, P. / Bracco, S. / Collarini, M. / Venturi, C. et al. | 1999
- 118
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Screening for purine and pyrimidine disorders from dried urine spotsFairbanks, L. D. / Escuredo, E. / Duley, J. A. / Simmonds, H. A. et al. | 1999
- 118
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Partial dihydropyrimidine dehydrogenase deficiency: an example of an important pharmacogenetic syndromeVan Gennip, A. H. / Vreken, P. / Van Lenthe, H. / Haasjex, J. / Van Kuilenburg, A. B. P. et al. | 1999
- 119
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Characterization of DHCR7 mutant alleles in 9 Smith-Lemli-Opitz familiesKozak, L. / Francova, H. / Hrabincova, E. / Prochazkova, D. / Juettnerova, V. / Bzduch, V. / Simek, P. et al. | 1999
- 119
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Serum lipids and apolipoproteins in childrens with Smith-Lemli-Opitz syndromeBehulova, D. / Bzduch, V. / Skodova, J. / Dello Russo, A. / Corso, G. / Ponec, J. / Kasanicka, A. et al. | 1999
- 120
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Molecular defects in primry trimethylaminuriaMayatepek, E. / Quak, E. / Wevers, R. / Kohlmueller, D. / Meissner, T. / Hoffmann, G. F. / Zschocke, J. et al. | 1999
- 120
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Smith-Lemli-Opitz syndrome: mutation analysis of patients identified many different disease-causing mutations in 7-DHCR geneWaterham, H. R. / Oostheim, W. / Romeijn, G. J. / Wanders, R. J. A. et al. | 1999
- 121
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Connective tissue abnormalities in patients with Menkes diseaseShirota, M. / Kodama, H. / Kobayashi, M. / Mochizuki, T. / Yanagawa, S. et al. | 1999
- 121
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Mild fish odour syndrome caused by common variants in the FMO3 geneZschocke, J. / Kohlmueller, D. / Quak, E. / Meissner, T. / Hoffmann, G. F. / Mayatepek, E. et al. | 1999
- 122
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Oxidative abnormalities in Menkes diseaseRizzo, C. / Bertini, E. / Dionisi-Vici, C. / Leuzzi, V. / Piemonte, F. / Sabetta, P. G. / Federici, G. et al. | 1999
- 122
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A hierarchical classification for inborn errors of metabolismWalter, J. H. / Besley, G. T. N. / Brown, P. J. B. et al. | 1999
- 123
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Dietary management of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD). A case report and surveyGillingham, M. / Van Calcar, S. / Ney, D. / Wolff, J. / Harding, C. et al. | 1999
- 123
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A Fanconi-De Toni-Debre syndrome with disturbances in sugar metabolism: the Fanconi Bickel syndromeEyskens, F. / Van Acker, K. et al. | 1999
- 123
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Isolated hepatocyte transplantation - a new approach to the treatment of severe urea cycle disordersHorslen, S. P. / McCowan, T. C. / Goerlzen, T. C. / Warkentin, P. I. / Strom, S. C. / Fox, I. J. et al. | 1999
- 124
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Diagnosis of inborn errors of metabolism in France - a national prospective studyNuoffer, J. M. / Baumgartner, M. / Detournay, B. / Delonlay, P. / Nassogne, M. C. / Touati, G. / Saudubray, J. M. et al. | 1999
- 124
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Elevated excretion of unrelated metabolites: think of guanidinoacetate methyltransferase deficiencyMaaswinkel-Mooij, P. / Peeters, E. / Onkenhout, W. / Jakobs, C. / Van der Knaap, M. et al. | 1999
- 125
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Analysis of leukotrienes in CSF of patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC~4 synthesis deficiencyMayatepek, E. / Zelezny, R. / Braetigam, C. / Haffmann, G. F. et al. | 1999
- 125
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Front molecular analysis to clinical prognosis: difficulties in predicting MPS I phenotypesGiugliani, R. / Schwartz, I. V. D. / Matte, U. / Burin, M. / Leistner, S. et al. | 1999
- 126
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Molecular analysis of carbonic anhydrase H deficiency in ItalyStrisciuglio, P. / Bonapace, G. / Concolino, D. / Ruffa, G. / Dammacco, A. et al. | 1999
- 126
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Neurological outcome of hyperinsulinism: a series of 100 patientsMenni, F. / De Lonlay, P. / Brunelle, F. / Nihoul-Fekete, C. / Robert, J. J. / Saudubary, J. M. et al. | 1999
- 127
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Lipoprotein lipase deficiency with pancreatitis studied in an animal modelChristophersen, B. / Olivercrona, G. / Nordstoga, K. et al. | 1999
- 127
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A patient with PFIC2 caused by a detect in the hepatic bile acid transporterWijburg, F. A. / Overberg, P. C. / Mueller, M. / De Vree, J. M. L. / Jansen, P. L. M. et al. | 1999
- 128
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MEFV mutations in familial mediterranean fever (FMF): an Australian experienceChristodoulou, J. / Roscioli, T. / Kamath, R. K. / McQuade, L. / Murrell, M. / Bennetts, B. et al. | 1999
- 128
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Antenatal expression of sulphite oxydase deficiencyHusson, I. / Gerard, B. / Dorche, C. / Walther-Louvier, U. / Ogier, H. et al. | 1999
- 129
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A primary genetic defect of delta 4-3-oxosteroid-5-beta-reductaseLemonde, H. A. / Custard, E. J. / Marazzi, M. G. / Scambler, P. J. / Clayton, P. T. et al. | 1999
- 129
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Isolated hypoglycorrhachia in a female newborn: an additional case of GLUT-1 deficiencyFerreiro, C. / Klepper, J. / Ranguelov, N. / Dan, B. / Abramowicz, M. J. / Vamos, E. / Voit, T. / Goyens, P. et al. | 1999
- 130
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Mutation analysis of Na^+/glucose cotransporter gene in a Japanese patient with glucose- galactose malabsorptionMori, Y. / Abe, T. / Yanagawa, Y. / Maeda, M. / Kasahara, M. et al. | 1999
- 130
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Benign cystinosis: clinical, biochemical and molecular correlationsAnikster, Y. / Lucero, C. / Shotelersuk, V. / Huizing, M. / Jaffe, R. / Schneider, J. / Thoene, J. / Gahl, W. et al. | 1999
- 131
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Phenotypic and genotypic characterization of patients with classical galactosaemiaSchadewaldt, P. / Pischke, G. / Gaertner, J. / Broesicke, H. / Wendel, U. et al. | 1999
- 131
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Noval mutations (Asn484Lys, Thr500Ala, Gly438Glu) in Morquio B diseaseSkomorowski, M.-A. / Bagshaw, R. / Zhang, S. / Whelan, D. / Clarke, J. T. R. / Callahan, J. W. et al. | 1999
- 132
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Normal carbohydrate tolerance by oral enzyme substitution in congenital sucraseisomaltase deficiencyLindblad, B. / Garberg, P. / Asp, N. G. et al. | 1999
- 132
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Novel mutations in patients with fructose‐1,6‐bisphosphatase deficiencyHerzog, B. / Wendel, U. / Morris, A. A. M. / Eschrich, K. et al. | 1999
- 132
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Follow-up of the Dutch galactosemia cohort 1992 1997Bosch, A. M. / De Klerk, J. B. C. / Poll-The, B. T. / Smeitink, J. A. M. / Spaapen, L. J. M. / Van Spronsen, F. J. / IJlst, L. / Mulder, J. / Wanders, R. J. A. / Bakker, H. D. et al. | 1999
- 133
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Transdermal induction of puberty and hormone replacement therapy in female with galactosaemiaRyan, E. / Naughten, E. / Thornton, P. S. et al. | 1999
- 133
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Osteoporosis in adult patients with galactosaemiaDe Valk, H. W. / Erkelens, D. W. et al. | 1999
- 134
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A rapid HPLC-tandem mass spectrometry method for the quantitative analysis of amino acids in body fluidsCasetta, B. / Shushan, B. / Chan, M. / Tagliacozzi, D. / Federici, G. et al. | 1999
- 134
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The evaluation of a new compact tandem mass spectrometer for research into inborn errors of metabolism (IEM)Casetta, B. / Shushan, B. / Krywawych, S. et al. | 1999
- 135
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A method for the determination of total homocysteine in plasma and urine by stable isotope dilution tandem mass spectrometryRinaldo, P. / Magera, M. J. / Casetta, B. et al. | 1999
- 135
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The application of HPLC/ESI tandem bis on urine for the screening of disorders of purine and pyrimidine metabolismIto, T. / Van Kuilenberg, A. B. P. / Haasnoot, A. J. / Bootsma, A. H. / Van Cruchten, A. / Wada, Y. / Van Gennip, A. H. et al. | 1999
- 136
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Molecular genetic validation of the tandem MS method used for newborn screening for MCAD deficiencyAndresen, B. S. / Dobrowolski, S. F. / Knudsen, I. / Banas, R. / Chace, D. / Naylor, E. / Gregersen, N. et al. | 1999
- 136
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Rapid analysis of bile alcohol glucuronides and sulphated steroids using electrospray tandem-mass spectrometry and its application in screening for cerebrotendinous xanthomatosis (CTX) and steroid sulphatase (STS) deficiencyBootsma, A. H. / Vreken, P. / Overmars, H. / Wevers, R. A. / Verrips, A. / Van Diggelen, O. P. / Wanders, R. J. A. / Van Gennip, A. H. et al. | 1999
- 137
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Fluorine-18 labelled 2-fluoro-2-deoxyglucose protein emission tomography (FDG PET) of the brain in glutaric aciduria type 1: clinical and genetic correlationsAl-Essa, M. / Bakheet, S. / Patay, Z. / Powe, J. / Ozand, P. T. et al. | 1999
- 137
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Hypothesis: delay in neuronal maturation in GA-I is a consequence of NMDA receptor downregulation by 3-OH-glutaric and glutaric acidsKoelker, S. / Ahlemeyer, B. / Krieglstein, J. / Hoffmann, G. F. et al. | 1999
- 138
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New case of Smith-Lemli-Opitz syndrome with electrolyte disturbancesBzduch, V. / Behulova, D. / Skodova, J. / Letenayava, I. / Kozak, L. / Dello Russo, A. / Corso, G. et al. | 1999
- 138
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Smith-Lemli-Opitz syndrome (SLOS): mild phenotypic extreme in two familiesNowaczyk, M. J. M. / Graham, G. E. / Nezarati, M. M. / Whelan, D. T. et al. | 1999
- 139
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Biochemical monitoring of treatment for galactosaemia: Biological variability in metabolite concentrationsHutcheson, A. C. J. / Murdoch‐Davis, C. / Green, A. / Preece, M. A. / Allen, J. / Holton, J. B. / Rylance, G. et al. | 1999
- 139
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Mutation analysis of MPS among Russian patientsVoskoboeva, E. / Krasnopolskaya, X. / Hopwood, J. J. / Karsten, S. / Bondeson, M.-L. / Peters, C. / Von Figura, K. et al. | 1999
- 139
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Mutation spectrum of galactosemia in the Netherlands: identification of 3 novel mutationsIJlst, L. / Bosch, A. M. / Mulders, J. / Oostheim, W. / De Klerk, J. B. C. / Poll-The, B. T. / Smeitink, J. A. M. / Spaapen, L. J. M. / Spronsen, F. J. V. / Wanders, R. J. A. et al. | 1999
- 140
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Alpha-N-acetylgalactosaminidase deficiency is not associated with neuroaxonal dystrophyBakker, H. D. / De Sonnaville, M. L. C. S. / Vrekemn, P. / Abeling, N. G. G. M. / Van Gennip, A. H. / Groener, J. E. M. / Koulemans, J. L. M. / Van Diggelen, O. P. et al. | 1999
- 140
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Ascorbic acid in cerebrospinal fluid of patients with neuronal ceroid-lipofuscinosisBrunner-Krainz, M. / Skladal, D. / Sass, J. O. et al. | 1999
- 141
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Hunter disease: molecular analysis in eight Portuguese patientsMoreira de Silva, I. / Froissart, R. / Marques dos Santos, H. / Lechner, M. C. / Bozon, D. / Maire, I. et al. | 1999
- 141
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Fanconi-Bickel syndrome (FBS): functional tests and dietetic treatment in a patientOgier de Baulny, H. / Touati, G. / Rigal, O. / Loirat, C. / Brivet, M. / Odievre, M. et al. | 1999
- 142
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Mutations in the CLN2 gene in German patients with late infantile and atypical neuronal ceroid lipofuscinosisSteinfeld, R. / Meyer, K. / Hertzherg, C. / Heim, P. / Gal, A. / Ullrich, K. / Kohlschuetter, A. et al. | 1999
- 142
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Sanfilippo B disease. Mutations in Greek patientsMichelakakis, H. / Beesley, C. / Moraitou, M. / Young, E. / Mavridou, I. / Winchesrer, B. et al. | 1999
- 143
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Tandem mass spectrometry: first experience in a regional neonatal screening program of GermanySchulze, A. / Kohlmueller, D. / Mayatepek, E. et al. | 1999
- 143
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Spectrum of inborn errors of methionine metabolismAl-Essa, M. / Al-Jishi, E. / Rashed, M. / Ozand, P. T. et al. | 1999
- 144
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Biochemical diagnosis of pyruvate dehydrogenase complex deficiency: a reliable assay for routine useWibrand, F. / Gaard, U. / Horn, N. et al. | 1999
- 144
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Relational database for molecular genetic laboratoriesSeppel, C. / Egger, T. / Hoffmann, G. F. / Zschocke, J. et al. | 1999
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Pharmacokinetics of betaine in healthy subjects and children with methylenetetrahydrofolate deficiencySchwahn, B. / Laryea, M. / Hafner, D. / Holfeld, T. / Wendel, U. et al. | 1999
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Determination of amino acid tissue concentrations in newborns by microdialysis: methodical evaluation and relation to plasma valuesRolinkski, B. / Baumeister, F. A. M. / Siakavara, E. / Roscher, A. A. et al. | 1999
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Treatable hyperhomocysteinemia and vascular cerebral lesionsPintos-Morell, G. / Garcia-Cazorla, M. A. / Artigas, M. / Blanco, F. / Rodes, M. / Baquero, M. et al. | 1999
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Measurement of phenylalanine and tyrosine without derivatisation using tandem massspectrometry (TMS)Turner, C. / Bird, S. / Dalton, N. et al. | 1999
- 147
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The 1998 ERNDIM external quality assurance scheme for quantitative assay of amino acidsKamoun, P. / Parvy, P. et al. | 1999
- 147
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Screening for biotinidase deficiency using electrospray tandem mass spectrometrySankaralingam, A. / Turner, C. / Dalton, N. et al. | 1999
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Is quality assurance for qualitative urinary organic acid analysis improving performance?Downing, M. / Bonham, J. R. / Alien, J. C. / Heap, S. J. / Manning, N. J. / Olpin, S. E. / Pollitt, R. J. et al. | 1999
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ERNDIM external quality assurance schemes: interactive website for submission of results and reports for quantitative schemesWeykamp, C. / Willems, J. / Van Gennip, A. / Duran, M. / Trijbels, F. / Doelman, C. et al. | 1999
- 149
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Glycogen storage disease type 1a in three siblings with the G270V mutationParvari, R. / Isam, J. / Moses, S. W. et al. | 1999
- 149
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Glycogen storage disease type la in three siblings with the G270V mutationParvari, R. / Isam, J. / Moses, S. W. et al. | 1999
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1998 European external quality assurance scheme for the quantitative analysis of organic acids in urineWeykamp, C. / Willems, J. / Van Gennip, A. / Duran, M. / Trijbels, F. / Doelman, C. et al. | 1999
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Molecular heterogeneity of Krabbe diseaseFu, L. / Inui, K. / Nishigaki, T. / Tatsumi, N. / Tsukamoto, H. / Kokubu, C. / Muramatsu, T. / Okada, S. et al. | 1999
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The human nuclear‐encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathologyTriepels, R. / Smeitink, J. / Loeffen, J. / Smeets, R. / Buskens, C. / Trijbels, F. / van den Heuvel, L. et al. | 1999
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The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial diseaseBonham, J. R. / Guthrie, P. / Downing, M. / Allen, J. C. / Tanner, M. S. / Sharrard, M. / Rittey, C. / Land, J. M. / Fensom, A. / O'Neill, D. et al. | 1999
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Multifocal bursitis in a patient with homozygous homocystinuriaHaedecke, C. / Anders, A.‐J. / Kellner, H. / Weiss, N. et al. | 1999
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Adult Sandhoff disease presenting with chronic diarrhoeaGomez‐Brouchet, A. / Cintas, P. / Lagier, E. / Voisin, T. / Delisle, M. B. / Fabre, N. / Gérand, G. / Salvayre, R. / Levade, T. et al. | 1999
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Metabolic decompensation and lactic acidosis in propionic acidaemia complicated by thiamine deficiencyMayatepek, E. / Schulze, A. et al. | 1999
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Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutationVan Kuilenburg, A. B. P. / Vreken, P. / Riva, D. / Botteon, G. / Abeling, N. G. G. M. / Bakker, H. D. / Van Gennip, A. H. et al. | 1999
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Carbohydrate‐deficient glycoprotein syndrome type 2Engelhardt, H. / Staudt, M. / Hässler, A. / Holzbach, U. / Freisinger, P. / Krägeloh‐mann, I. et al. | 1999
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Hormone replacement therapy in galactosaemic twins with ovarian failure and severe osteoporosisRenner, C. / Razeghi, S. / Überall, M. A. / Licht, P. / Wildt, L. / Dörr, H. G. / Hensen, J. / Schweitzer, S. et al. | 1999
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Primary pneumococcal peritonitis associated with tyrosinaemia type 1Gill, D. S. / Lipscomb, A. P. et al. | 1999
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A case of Menkes syndrome with pyloric stenosis: An effect of copper deficiency on NOS1?Cunningham, S. / Crofton, P. M. / Marshall, T. G. / Fitzpatrick, D. R. et al. | 1999
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Succinic semialdehyde dehydrogenase deficiency in siblings: Clinical heterogeneity and response to early treatmentPeters, H. / Cleary, M. / Boneh, A. et al. | 1999
- 200
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Muscle strength in children with medium‐chain acyl‐CoA dehydrogenase deficiencyCusters, J. W. H. / Poll‐The, B. T. / Duran, M. / de Klerk, J. B. C. / Uiterwaal, C. S. P. M. / Helders, P. J. M. et al. | 1999
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Inaccurate measurement of free carnitine by the electrospray tandem mass spectrometry screening method for blood spotsJohnson, D. W. et al. | 1999
- 201
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Inaccurate measurement of free carnitine by the electrospray tandem mass spectrometer screening method for blood spotsJohnson, D. W. et al. | 1999
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Enzyme replacement therapy in type III Gaucher diseaseTylki‐szymańska, A. / Czartoryska, B. et al. | 1999
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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuriaWaters, P. J. / Parniak, M. A. / Akerman, B. R. / Jones, A. O. / Scriver, C. R. et al. | 1999
- 213
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Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa‐responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiencyHyland, K. / Nygaard, T. G. / Trugman, J. M. / Swoboda, K. J. / Arnold, L. A. / Sparagana, S. P. et al. | 1999
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Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loadingBlau, N. / Thöny, B. / Renneberg, A. / Penzien, J. M. / Hyland, K. / Hoffmann, G. F. et al. | 1999
- 221
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Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentrationHeales, S. J. R. / Canevari, L. / Brand, M. P. / Clark, J. B. / Land, J. M. / Hyland, K. et al. | 1999
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Pyroglutamic aciduria and nephropathic cystinosisRizzo, C. / Ribes, A. / Pastore, A. / Dionisi‐Vici, C. / Greco, M. / Rizzoni, G. / Federici, G. et al. | 1999
- 227
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Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes with NTBC treatmentDepetris‐Boldini, C. / Galetto, R. / Videla, M. P. / de Kremer Dodelson, R. et al. | 1999
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Increased excretion of coproporphyrin I in a patient with hereditary tyrosinaemia type I: Relevant changes wtih NTBC treatmentDepetris-Boldini, C. / Galetto, R. / Videla, M. P. / De Kremer Dodelson, R. et al. | 1999
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-
Cystinylglycinuria: A new neurometabolic disorder?Bellet, H. / Rejou, F. / Vallat, C. / Mion, H. / Dimeglio, A. et al. | 1999
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Reduced glutathione, γ‐glutamylcysteine, cysteine and γ‐glutamylglutamine in γ‐glutamyltransferase deficiencyHammond, J. W. / Potter, M. / Sim, K. G. / Wilcken, B. et al. | 1999
- 240
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Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiencyAbeling, N. G. G. M. / van Gennip, A. H. / Blom, H. / Wevers, R. A. / Vreken, P. / van Tinteren, H. L. G. / Bakker, H. D. et al. | 1999
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Decreased circulating plasma lipids in patients with homocystinuriaMoat, S. J. / Bonham, J. R. / Allen, J. C. / Powers, H. J. / McDowell, I. F. W. et al. | 1999
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Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolismCerone, R. / Schiaffino, M. C. / Caruso, U. / Lupino, S. / Gatti, R. et al. | 1999
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-
What is the origin of 3‐methylglutaconic acid?Walsh, R. / Conway, H. / Roche, G. / Mayne, P. D. et al. | 1999
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-
Biochemistry of glutaric aciduria type I: Activities of in vitro expressed wild‐type and mutant cDNA encoding human glutaryl‐CoA dehydrogenaseLiesert, M. / Zschocke, J. / Hoffmann, G. F. / Mühlhäuser, N. / Buckel, W. et al. | 1999
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3‐Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitroKölker, S. / Ahlemeyer, B. / Krieglstein, J. / Hoffmann, G. F. et al. | 1999
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Prenatal diagnosis of Canavan disease — Problems and dilemmasBesley, G. T. N. / Elpeleg, O. N. / Shaag, A. / Manning, N. J. / Jakobs, C. / Walter, J. H. et al. | 1999
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Identification of the molecular defect in a severe case of carnitine‐acylcarnitine carrier deficiencyCosta, C. / Costa, J. M. / Nuoffer, J. M. / Slama, A. / Boutron, A. / Saudubray, J. M. / Legrand, A. / Brivet, M. et al. | 1999
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Carnitine‐acylcarnitine translocase deficiency is a treatable diseaseAl Aqeel, A. I. / Rashed, M. S. / Wanders, R. J. A. et al. | 1999
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Docosahexaenoic acid and retinal function in children with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiencyHarding, C. O. / Gillingham, M. B. / van Calcar, S. C. / Wolff, J. A. / Verhoeve, J. N. / Mills, M. D. et al. | 1999
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Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHarding, C. O. / Gillingham, M. B. / Van Calcar, S. C. / Wolff, J. A. / Verhoeve, J. N. / Mills, M. D. et al. | 1999
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DNA‐based prenatal diagnosis for very‐long‐ chain acyl‐CoA dehydrogenase deficiencyAndresen, B. S. / Olpin, S. / Kvittingen, E. A. / Augoustides‐Savvopoulou, P. / Lindhout, D. / Halley, D. J. J. / Vianey‐Saban, C. / Wanders, R. J. A. / IJlst, L. / Schroeder, L. D. et al. | 1999
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Determination of total fatty acids in plasma: cis-5-Tetradecenoic acid (C~1~4~:~1 omega-9) in the diagnosis of long-chain fatty acid oxidation defectsDivry, P. / Vianey-Saban, C. / Mathieu, M. et al. | 1999
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Determination of total fatty acids in plasma: cis‐5‐Tetradecenoic acid (C14:1ω‐9) in the diagnosis of long‐chain fatty acid oxidation defectsDivry, P. / Vianey‐Saban, C. / Mathieu, M. et al. | 1999
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Problems in the detection of fatty acid oxidation defects: Experience of a quality assurance programme for qualitative urinary organic acid analysisDowning, M. / Allen, J. C. / Bonham, J. R. / Edwards, R. G. / Manning, N. J. / Olpin, S. E. / Pollitt, R. J. et al. | 1999
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Adsorption of small hydroxy acids on glass: A pitfall in quantitative urinary organic acids analysis by GC-MSVan Landeghem, A. A. J. / Somers-Pijnenburg, Y. T. J. / Somers, W. J. H. M. / Stokwielder, C. / De Bruyn, W. / Van Den Berg, G. B. et al. | 1999
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Adsorption of small hydroxy acids on glass: A pitfall in quantitative urinary organic acid analysis by GC‐MSvan Landeghem, A. A. J. / Somers‐Pijnenburg, Y. T. J. / Somers, W. J. H. M. / Stokwielder, C. / de Bruyn, W. / van den Berg, G. B. et al. | 1999
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Diagnosis of inborn errors of metabolism using 1H NMR spectroscopic analysis of urineBamforth, F. J. / Dorian, V. / Vallance, H. / Wishart, D. S. et al. | 1999
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Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defectsVreken, P. / van Lint, A. E. M. / Bootsma, A. H. / Overmars, H. / Wanders, R. J. A. / van Gennip, A. H. et al. | 1999
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Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disordersBootsma, A. H. / Overmars, H. / van Rooij, A. / van Lint, A. E. M. / Wanders, R. J. A. / van Gennip, A. H. / Vreken, P. et al. | 1999
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Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spetrometry: Application for selective screening of peroxisomal disordersBootsma, A. H. / Overmars, H. / Van Rooij, A. / Van Lint, A. E. M. / Wanders, R. J. A. / Van Gennip, A. H. / Vreken, P. et al. | 1999
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Mutations in PEX1 in peroxisome biogenesis dosorders: G843D and a mild clinical phenotypeGaertner, J. / Preuss, N. / Brosius, U. / Biermanns, M. et al. | 1999
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Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotypeGärtner, J. / Preuss, N. / Brosius, U. / Biermanns, M. et al. | 1999
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Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency)Wanders, R. J. A. / Mooijer, P. A. W. / Dekker, C. / Suzuki, Y. / Shimozawa, N. et al. | 1999
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Molecular basis of Sjögren‐Larsson syndrome: Frequency of the 1297–1298 del GA and 943C→T mutation in 29 patientsIJlst, L. / Oostheim, W. / van Werkhoven, M. / Willemsen, M. A. A. P. / Wanders, R. J. A. et al. | 1999
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Molecular basis of Sjoegren - Larsson syndrome: Frequency of the 1297-1298 del GA and 943C -> T mutation in 29 patientsIjlst, L. / Oostheim, W. / Van Werkhoven, M. / Willemsen, M. A. A. P. / Wanders, R. J. A. et al. | 1999
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Molecular study of spinal muscular atrophy patients with hybrid genes in BulgariaKremensky, I. / Jankova, S. / Bochukova, E. / Uzunova, M. / Litvinenko, I. / Jordanova, A. et al. | 1999
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Molecular and biochemical basis for variants and deficiency forms of galactose‐1‐phosphate uridyltransferaseShin, Y. S. / Zschocke, J. / Das, A. M. / Podskarbi, T. et al. | 1999
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Glycogen storage disease type IV presenting as hydrops fetalisAlegria, A. / Martins, E. / Dias, M. / Cunha, A. / Cardoso, M. L. / Maire, I. et al. | 1999
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Preface: The 36th Annual Symposium of the SSIEM—York 1998| 1999
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Functional magnetic resonance imaging: Clinical applications and potentialMatthews, P. M. / Clare, S. / Adcock, J. et al. | 1999
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Neurochemistry and defects of biogenic amine neurotransmitter metabolismHyland, K. et al. | 1999
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A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)Wevers, R. A. / de Rijk‐van Andel, J. F. / Bräutigam, C. / Geurtz, B. / van den Heuvel, L. P. W. J. / Steenbergen‐Spanjers, G. C. H. / Smeitink, J. A. M. / Hoffmann, G. F. / Gabreëls, F. J. M. et al. | 1999
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Biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)Wevers, R. A. / De Rijk-van Andel, J. F. / Braeutigam, C. / Geurtz, B. / Van den Heuvel, L. P. W. J. / Steenbergen-Spanjers, G. C. H. / Smeitink, J. A. M. / Hoffmann, G. F. / Gabreeels, F. J. M. et al. | 1999
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Inborn errors of neurotransmitter receptorsSurtees, R. et al. | 1999
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Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapyHoffmann, G. F. / Zschocke, J. et al. | 1999
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Glutaric aciduria type I: Pathomechanisms of neurodegenerationUllrich, K. / Flott‐Rahmel, B. / Schluff, P. / Musshoff, U. / Das, A. / Lücke, T. / Steinfeld, R. / Christensen, E. / Jakobs, C. / Ludolph, A. et al. | 1999
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D‐2‐Hydroxyglutaric aciduria: Further clinical delineationvan der Knaap, M. S. / Jakobs, C. / Hoffmann, G. F. / Duran, M. / Muntau, A. C. / Schweitzer, S. / Kelley, R. I. / Parrot‐Roulaud, F. / Amiel, J. / De Lonlay, P. et al. | 1999
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4‐Aminobutyrate aminotransferase (GABA‐transaminase) deficiencyMedina‐Kauwe, L. K. / Tobin, A. J. / De Meirleir, L. / Jaeken, J. / Jakobs, C. / Nyhan, W. L. / Gibson, K. M. et al. | 1999
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Defects in activation and transport of fatty acidsBrivet, M. / Boutron, A. / Slama, A. / Costa, C. / Thuillier, L. / Demaugre, F. / Rabier, D. / Saudubray, J. M. / Bonnefont, J. P. et al. | 1999
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Disorders of mitochondrial fatty acyl‐CoA β‐oxidationWanders, R. J. A. / Vreken, P. / den Boer, M. E. J. / Wijburg, F. A. / Van Gennip, A. H. / IJlst, L. et al. | 1999
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Recognition and management of fatty acid oxidation defects: A series of 107 patientsSaudubray, J. M. / Martin, D. / De Lonlay, P. / Touati, G. / Poggi‐Travert, F. / Bonnet, D. / Jouvet, P. / Boutron, M. / Slama, A. / Vianey‐Saban, C. et al. | 1999
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Automated mutation analysisRavine, D. et al. | 1999
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Genomics, mutations and the Internet: The naming and use of partsScriver, C. R. / Nowacki, P. M. et al. | 1999
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The spectrum of mutations of the aspartoacylase gene in Canavan disease in non‐Jewish patientsElpeleg, O. N. / Shaag, A. et al. | 1999
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The neuronal ceroid‐lipofuscinoses (Batten disease): A new class of lysosomal storage diseasesBennett, M. J. / Hofmann, S. L. et al. | 1999
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Spinal muscular atrophyTalbot, K. et al. | 1999
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X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)Barth, P. G. / Wanders, R. J. A. / Vreken, P. / Janssen, E. A. M. / Lam, J. / Baas, F. et al. | 1999
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Tandem mass spectrometry — The potentialBartlett, K. / Pourfarzam, M. et al. | 1999
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Population newborn screening for inherited metabolic disease: Current UK perspectivesGreen, A. / Pollitt, R. J. et al. | 1999
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Liver transplantation for citrullinaemia improves intellectual functionFletcher, J. M. / Couper, R. / Moore, D. / Coxon, R. / Dorney, S. et al. | 1999
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Fasting, postprandial, and post‐methionine‐load homocysteinaemia and methylenetetrahydrofolate reductase polymorphism in vascular diseaseCandito, M. / Bedoucha, P. / Gibelin, P. / Jambou, D. / de Franchis, R. / Sadoul, J.‐L. / Chatel, M. / Van Obberghen, E. et al. | 1999
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Principles of Perinatal–Neonatal Metabolism, 2nd Edition. Edited by Richard M. CowettAddison, G. M. et al. | 1999
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Manual of Metabolic Diseases. Mohammed A. Al‐Elessa and Pinar T. OzandCleary, M. A. et al. | 1999
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3‐Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh diseaseDi Rocco, M. / Caruso, U. / Moroni, I. / Lupino, S. / Lamantea, E. / Fantasia, A. R. / Borrone, C. / Gibson, K. M. et al. | 1999
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An Atlas of Common Metabolic and Genetic Diseases. Mohammed A. Al‐Elessa, Nadia A. Sakati, Pinar T. OzandCleary, M. A. et al. | 1999
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Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalaminEnns, G. M. / Barkovich, A. J. / Rosenblatt, D. S. / Fredrick, D. R. / Weisiger, K. / Ohnstad, C. / Packman, S. et al. | 1999
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Single‐cell analysis of mitochondrial DNA in patients and a carrier of the tRNALeu(UUR) gene mutationSaitoh, S. / Momoi, M. Y. / Yamagata, T. / Nakauchi, H. / Nihei, K. / Fujii, M. et al. | 1999
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Personality profiles of mothers of children with mitochondrial disordersVarvogli, L. / Waisbren, S. E. et al. | 1999
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Intracellular degradation of fluorescent glycolipids by lysosomal enzymes and their activatorsMadar‐Shapiro, L. / Pasmanik‐Chor, M. / Dinur, T. / Dagan, A. / Gatt, S. / Horowitz, M. et al. | 1999
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Long‐term follow‐up following bone marrow transplantation for Hunter diseaseVellodi, A. / Young, E. / Cooper, A. / Lidchi, V. / Winchester, B. / Wraith, J. E. et al. | 1999