Adult onset ornithine transcarbamylase deficiency precipitated by sodium valproate (Englisch)
- Neue Suche nach: Ellaway, C. J.
- Neue Suche nach: Bennetts, B.
- Neue Suche nach: Tuck, R. R.
- Neue Suche nach: Wilcken, B.
- Neue Suche nach: Ellaway, C. J.
- Neue Suche nach: Bennetts, B.
- Neue Suche nach: Tuck, R. R.
- Neue Suche nach: Wilcken, B.
In:
JOURNAL OF INHERITED METABOLIC DISEASE
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22
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83
;
1999
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ISSN:
- Aufsatz (Zeitschrift) / Print
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Titel:Adult onset ornithine transcarbamylase deficiency precipitated by sodium valproate
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Beteiligte:Ellaway, C. J. ( Autor:in ) / Bennetts, B. ( Autor:in ) / Tuck, R. R. ( Autor:in ) / Wilcken, B. ( Autor:in )
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Erschienen in:JOURNAL OF INHERITED METABOLIC DISEASE ; 22 ; 83
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Verlag:
- Neue Suche nach: KLUWER ACADEMIC PUB
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Erscheinungsdatum:01.01.1999
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Format / Umfang:83 pages
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ISSN:
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Medientyp:Aufsatz (Zeitschrift)
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Format:Print
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Sprache:Englisch
- Neue Suche nach: 616.39
- Weitere Informationen zu Dewey Decimal Classification
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Klassifikation:
DDC: 616.39 -
Datenquelle:
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Blood-brain phenylalanine relationships in adults with phenylketonuriaMoats, R. / Guttler, F. / Koch, R. et al. | 1999
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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
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Abstracts ‐ SSIEM 37th Annual Symposium| 1999
- 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
- 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
- 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
- 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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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
- 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
- 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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Therapy of X-linked adrenoleukodystrophy. Plans for it multicenter trialMoser, H. / Bezman, L. / Raymond, G. / Shou-En-Lu 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
- 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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Mutated adrenoleukodystrophy protein can act negatively transdominant over adrenoleukodystrophy wildtype proteinBerger, J. / Unterrainer, G. / Netik, A. / Molzer, B. / Forss-Petter, S. 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
- 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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SURF-1 mutations in Leigh disease with cytochrome-c oxidase deficiencyUziel, G. / Moroni, I. / Lamantea, E. / Tiranti, V. / Zeviani, M. 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
- 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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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
- 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
- 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
- 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
- 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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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
- 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
- 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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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
- 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
- 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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Mononuclear cells in biochemical control of X-linked adrenoleukodystrophy treatments: BMT and lovastatinGiros, M. / Ruiz, M. 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
- 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
- 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
- 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
- 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
- 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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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
- 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
- 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
- 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
- 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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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
- 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
- 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
- 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
- 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
- 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
- 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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Multimodality evoked potentials in Gaucher diseaseParenti, G. / Perretti, A. / Balbi, P. / Titomanlio, L. / Marzano, M. G. / Andria, G. 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
- 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
- 46
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Molecular genetic mutation analysis in Hungarian Gaucher's patientsLaszlo, A. / Chabas, A. / Endreffy, E. / Rasko, I. 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
- 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
- 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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CDG: beyond the screenFletcher, J. M. / Matthijs, G. / Jaeken, J. / Nelson, P. 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
- 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
- 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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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
- 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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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
- 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
- 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
- 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
- 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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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
- 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
- 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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Alkaptonuria in adult patientsBarrientos, Z. / De Valk, H. W. / Erkelens, D. W. / Kruize, A. A. / Poll-The, B. T. 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
- 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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Different transcripts of the human methylene-tetrahydrofolate reductase (MTHFR) geneHomberger, A. / Linnebank, M. / Rapp, B. / Winter, C. / Koch, H. G. 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
- 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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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
- 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
- 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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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
- 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
- 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
- 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
- 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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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
- 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
- 82
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Detection of gene deletions in female patients with ornithine transcarbamylase (OTC) deficiencyCranston, T. / Genet, S. 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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Nonketotic hyperglycinemia: acute hydrocephalus is associated with a poor prognosisVan Hove, J. L. K. / Rutledge, S. L. / Klishnani, P. 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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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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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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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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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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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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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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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
- 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
- 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
- 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
- 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
- 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
- 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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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
- 93
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Fatal genetic defect causing Wolman diseaseMayatepek, E. / Seedorf, U. / Wiebusch, H. / Lenhartz, H. / Assmann, G. 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
- 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
- 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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A new phenotype of pyruvate carboxylase deficiencyBurlina, A. B. / Bonafe, L. / Zachello, F. / Shin, Y. 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
- 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
- 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
- 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
- 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
- 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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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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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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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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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
- 100
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Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter geneLamhonwah, A.-M. / Tein, I. 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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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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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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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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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
- 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
- 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
- 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
- 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
- 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
- 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
- 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
- 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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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
- 111
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Protein catabolism, ketonuria and -oxidation defectsRizzo, C. / Dionisi-Vici, C. 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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Functional brain findings in some organic and amino acid disordersAl-Essa, M. / Bakheet, S. / Patay, Z. / Powe, J. / Ozand, P. T. 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
- 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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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
- 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
- 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
- 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
- 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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A hierarchical classification for inborn errors of metabolismWalter, J. H. / Besley, G. T. N. / Brown, P. J. B. 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
- 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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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
- 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
- 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
- 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
- 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
- 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
- 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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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
- 127
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Lipoprotein lipase deficiency with pancreatitis studied in an animal modelChristophersen, B. / Olivercrona, G. / Nordstoga, K. 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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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
- 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
- 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
- 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
- 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
- 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
- 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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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
- 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
- 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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Spectrum of inborn errors of methionine metabolismAl-Essa, M. / Al-Jishi, E. / Rashed, M. / Ozand, P. T. 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
- 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
- 145
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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
- 145
-
Pharmacokinetics of betaine in healthy subjects and children with methylenetetrahydrofolate deficiencySchwahn, B. / Laryea, M. / Hafner, D. / Holfeld, T. / Wendel, U. et al. | 1999
- 146
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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
- 146
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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
- 148
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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
- 148
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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 la in three siblings with the G270V mutationParvari, R. / Isam, J. / Moses, S. W. et al. | 1999
- 149
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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
- 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
- 155
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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
- 163
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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
- 174
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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
- 185
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Multifocal bursitis in a patient with homozygous homocystinuriaHaedecke, C. / Anders, A.‐J. / Kellner, H. / Weiss, N. et al. | 1999
- 187
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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
- 189
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Metabolic decompensation and lactic acidosis in propionic acidaemia complicated by thiamine deficiencyMayatepek, E. / Schulze, A. et al. | 1999
- 191
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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
- 192
-
Carbohydrate‐deficient glycoprotein syndrome type 2Engelhardt, H. / Staudt, M. / Hässler, A. / Holzbach, U. / Freisinger, P. / Krägeloh‐mann, I. et al. | 1999
- 194
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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
- 195
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Primary pneumococcal peritonitis associated with tyrosinaemia type 1Gill, D. S. / Lipscomb, A. P. et al. | 1999
- 197
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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
- 198
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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
- 201
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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
- 203
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Enzyme replacement therapy in type III Gaucher diseaseTylki‐szymańska, A. / Czartoryska, B. et al. | 1999
- 208
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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
- 216
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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
- 224
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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
- 227
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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
- 231
-
Cystinylglycinuria: A new neurometabolic disorder?Bellet, H. / Rejou, F. / Vallat, C. / Mion, H. / Dimeglio, A. et al. | 1999
- 235
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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
- 243
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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
- 247
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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
- 251
-
What is the origin of 3‐methylglutaconic acid?Walsh, R. / Conway, H. / Roche, G. / Mayne, P. D. et al. | 1999
- 256
-
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
- 259
-
3‐Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitroKölker, S. / Ahlemeyer, B. / Krieglstein, J. / Hoffmann, G. F. et al. | 1999
- 263
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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
- 267
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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
- 271
-
Carnitine‐acylcarnitine translocase deficiency is a treatable diseaseAl Aqeel, A. I. / Rashed, M. S. / Wanders, R. J. A. et al. | 1999
- 276
-
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
- 276
-
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
- 281
-
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
- 286
-
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
- 286
-
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
- 289
-
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
- 293
-
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
- 293
-
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
- 297
-
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
- 302
-
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
- 307
-
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
- 307
-
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
- 311
-
Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotypeGärtner, J. / Preuss, N. / Brosius, U. / Biermanns, M. et al. | 1999
- 311
-
Mutations in PEX1 in peroxisome biogenesis dosorders: G843D and a mild clinical phenotypeGaertner, J. / Preuss, N. / Brosius, U. / Biermanns, M. et al. | 1999
- 314
-
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
- 319
-
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
- 319
-
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
- 322
-
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
- 327
-
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
- 330
-
Glycogen storage disease type IV presenting as hydrops fetalisAlegria, A. / Martins, E. / Dias, M. / Cunha, A. / Cardoso, M. L. / Maire, I. et al. | 1999
- 335
-
Preface: The 36th Annual Symposium of the SSIEM—York 1998| 1999
- 337
-
Functional magnetic resonance imaging: Clinical applications and potentialMatthews, P. M. / Clare, S. / Adcock, J. et al. | 1999
- 353
-
Neurochemistry and defects of biogenic amine neurotransmitter metabolismHyland, K. et al. | 1999
- 364
-
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
- 364
-
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
- 374
-
Inborn errors of neurotransmitter receptorsSurtees, R. et al. | 1999
- 381
-
Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapyHoffmann, G. F. / Zschocke, J. et al. | 1999
- 392
-
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
- 404
-
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
- 414
-
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
- 428
-
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
- 442
-
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
- 487
-
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
- 503
-
Automated mutation analysisRavine, D. et al. | 1999
- 519
-
Genomics, mutations and the Internet: The naming and use of partsScriver, C. R. / Nowacki, P. M. et al. | 1999
- 531
-
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non‐Jewish patientsElpeleg, O. N. / Shaag, A. et al. | 1999
- 535
-
The neuronal ceroid‐lipofuscinoses (Batten disease): A new class of lysosomal storage diseasesBennett, M. J. / Hofmann, S. L. et al. | 1999
- 545
-
Spinal muscular atrophyTalbot, K. et al. | 1999
- 555
-
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
- 568
-
Tandem mass spectrometry — The potentialBartlett, K. / Pourfarzam, M. et al. | 1999
- 572
-
Population newborn screening for inherited metabolic disease: Current UK perspectivesGreen, A. / Pollitt, R. J. et al. | 1999
- 581
-
Liver transplantation for citrullinaemia improves intellectual functionFletcher, J. M. / Couper, R. / Moore, D. / Coxon, R. / Dorney, S. et al. | 1999
- 587
-
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
- 587
-
Principles of Perinatal–Neonatal Metabolism, 2nd Edition. Edited by Richard M. CowettAddison, G. M. et al. | 1999
- 592
-
Manual of Metabolic Diseases. Mohammed A. Al‐Elessa and Pinar T. OzandCleary, M. A. et al. | 1999
- 593
-
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
- 598
-
An Atlas of Common Metabolic and Genetic Diseases. Mohammed A. Al‐Elessa, Nadia A. Sakati, Pinar T. OzandCleary, M. A. et al. | 1999
- 599
-
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
- 608
-
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
- 615
-
Personality profiles of mothers of children with mitochondrial disordersVarvogli, L. / Waisbren, S. E. et al. | 1999
- 623
-
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
- 638
-
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