Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 3
Results: 33
Localization of receptors for endocytosis of lysosomal enzymes on different brain cells.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 313, doi. 10.1023/A:1005305213832
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- Article
Cholesterol biosynthesis, peroxisomes and peroxisomal disorders: Mevalonate kinase is not only deficient in Zellweger syndrome but also in rhizomelic chondrodysplasia punctata.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 309, doi. 10.1023/A:1005353129761
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- Article
Molecular basis of rhizomelic chondrodysplasia punctata type I: High frequency of the Leu-292 Stop mutation in 38 patients.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 306, doi. 10.1023/A:1005301112923
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Identification of the newly discovered 58kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: Implications for peroxisomal β-oxidation disorders.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 302, doi. 10.1023/A:1005349028853
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Bifunctional protein deficiency: Complementation within the same group suggesting differential enzyme defects and clues to the underlying basis.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 298, doi. 10.1023/A:1005396912015
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Defective oxidation of hydroxyeicosatetraenoic acids in the liver of patients with Zellweger syndrome.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 295, doi. 10.1023/A:1005344927944
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Lipoxygenase metabolites in amniotic fluid of patients with Zellweger syndrome.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 292, doi. 10.1023/A:1005340811106
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- Article
Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 288, doi. 10.1023/A:1005388710197
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X-linked adrenoleukodystrophy: Improved prenatal diagnosis using both biochemical and immunological methods.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 285, doi. 10.1023/A:1005336726127
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- Article
Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G→A point mutation.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 280, doi. 10.1023/A:1005384609289
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Dihydropyrimidine dehydrogenase deficiency: A novel mutation and expression of missense mutations in E. coli.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 276, doi. 10.1023/A:1005380525218
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- Article
Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 272, doi. 10.1023/A:1005328424310
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- Article
Disturbed metabolism of guanidino compounds characterized by elevated excretion of β-guanidinopropionic acid and γ-guanidinobutyric acid – An effect of vigabatrin treatment?
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 268, doi. 10.1023/A:1005376307471
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Carnitine–acylcarnitine carrier deficiency: Identification of the molecular defect in a patient.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 262, doi. 10.1023/A:1005324323401
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Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 255, doi. 10.1023/A:1005368106563
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L-2-Hydroxyglutaric aciduria and lactic acidosis.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 251, doi. 10.1023/A:1005316121584
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- Article
D-2-Hydroxyglutaric aciduria: Evidence of clinical and biochemical heterogeneity.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 247, doi. 10.1023/A:1005364004746
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- Article
Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 243, doi. 10.1023/A:1005359920675
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Aromatic L-amino acid decarboxylase deficiency: A new case with a mild clinical presentation and unexpected laboratory findings.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 240, doi. 10.1023/A:1005307919767
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Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: Influence of different phenylalanine hydroxylase mutations.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 236, doi. 10.1023/A:1005355802928
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Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: Two new mutations in the GALT gene which cause a GALT activity decrease by 40–50% of normal in red cells.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 232, doi. 10.1023/A:1005303818858
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Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 227, doi. 10.1023/A:1005399602020
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Pyruvate dehydrogenase E1α deficiency in a family: Different clinical presentation in two siblings.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 224, doi. 10.1023/A:1005347501111
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Dysregulation of the mitochondrial ATP-synthase in respiratory chain defects: First experience.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 220, doi. 10.1023/A:1005395417041
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Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 216, doi. 10.1023/A:1005391300203
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The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: Tissue expression and mutation detection.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 210, doi. 10.1023/A:1005339332062
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Phenotypic characterization of mice with targeted disruption of glycosylasparaginase gene: A mouse model for aspartylglycosaminuria.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 207, doi. 10.1023/A:1005387215224
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Copper and ceruloplasmin metabolism in the LEC rat, an animal model for Wilson disease.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 203, doi. 10.1023/A:1005335231153
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Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 199, doi. 10.1023/A:1005383114315
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Investigation of the copper binding sites in the Menkes disease protein, ATP7A.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 195, doi. 10.1023/A:1005331130245
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Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 191, doi. 10.1023/A:1005379013406
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- Article
Alterations of hepatic peroxisomes in tyrosinaemia type I: Return to fetal type?
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 186, doi. 10.1023/A:1005351129336
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Preface.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 3, p. 185, doi. 10.1023/A:1017145601370
- Publication type:
- Article