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