Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 873, doi. 10.1023/A:1005435121933
- By:
- Publication type:
- Article
Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 8
Results: 14
1
2
Novel nucleotide substitutions in mitochondrial DNA.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 871, doi. 10.1023/A:1005483005095
- By:
- Publication type:
- Article
3
Unusual pure motor axonal neuropathy in a Burmese family with galactosialidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 869, doi. 10.1023/A:1005431021025
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- Publication type:
- Article
4
N-Acetylglutamate synthetase deficiency: Favourable experience with carbamylglutamate.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 867, doi. 10.1023/A:1005478904186
- By:
- Publication type:
- Article
5
Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 864, doi. 10.1023/A:1005426920116
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- Publication type:
- Article
6
Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann–Pick type C phenotype.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 853, doi. 10.1023/A:1005474803278
- By:
- Publication type:
- Article
7
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 846, doi. 10.1023/A:1005422819207
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- Publication type:
- Article
8
Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 837, doi. 10.1023/A:1005470702369
- By:
- Publication type:
- Article
9
Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 829, doi. 10.1023/A:1005418718299
- By:
- Publication type:
- Article
10
Four novel mutations at the cystathionine β-synthase locus causing homocystinuria.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 823, doi. 10.1023/A:1005466601461
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- Publication type:
- Article
11
Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 812, doi. 10.1023/A:1005414617390
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- Publication type:
- Article
12
One-methyl group metabolism in non-ketotic hyperglycinaemia: Mildly elevated cerebrospinal fluid homocysteine levels.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 799, doi. 10.1023/A:1005462400552
- By:
- Publication type:
- Article
13
The success of dietary protein restriction in alkaptonuria patients is age-dependent.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 791, doi. 10.1023/A:1005410416482
- By:
- Publication type:
- Article
14
Benefits of normalizing plasma phenylalanine: Impact on behaviour and health. A case report.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 785, doi. 10.1023/A:1005482732411
- By:
- Publication type:
- Article