Mutational analysis of two frequently observed lipoprotein lipase gene variants in the Japanese population.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 108, doi. 10.1023/A:1005334228904
- By:
- Publication type:
- Article
Works matching IS 01418955 AND DT 1997 AND VI 20 AND IP 1
Results: 17
1
2
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 106, doi. 10.1023/A:1005382112066
- By:
- Publication type:
- Article
3
Pyrimidine metabolism in hereditary orotic aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 104, doi. 10.1023/A:1005330127995
- By:
- Publication type:
- Article
4
Leigh syndrome resulting from de novo mutation at position 8993 of mitochodrial DNA.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 102, doi. 10.1023/A:1005378011157
- By:
- Publication type:
- Article
5
5α-Reductase deficiency in patients with micropenis.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 95, doi. 10.1023/A:1005326027087
- By:
- Publication type:
- Article
6
Plasmalogens and oxidative stress: evidence against a major role of plasmalogens in protection against the superoxide anion radical.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 85, doi. 10.1023/A:1005321910248
- By:
- Publication type:
- Article
7
Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscinosis.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 74, doi. 10.1023/A:1005365709340
- By:
- Publication type:
- Article
8
Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 67, doi. 10.1023/A:1005313724361
- By:
- Publication type:
- Article
9
Progression of X-linked adrenoleukodystrophy under interferon-β therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 59, doi. 10.1023/A:1005361607523
- By:
- Publication type:
- Article
10
Decreased platelet membrane anisotropy in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 54, doi. 10.1023/A:1005309623452
- By:
- Publication type:
- Article
11
A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 49, doi. 10.1023/A:1005357506614
- By:
- Publication type:
- Article
12
Severe lactic acidosis and neonatal death in Pearson syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 43, doi. 10.1023/A:1005305422544
- By:
- Publication type:
- Article
13
Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 39, doi. 10.1023/A:1005353305705
- By:
- Publication type:
- Article
14
Bottlenecks and beyond: mitochondrial DNA segregation in health and disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 2, doi. 10.1023/A:1005336903888
- By:
- Publication type:
- Article
15
Dextromethorphan in nonketotic hyperglycinaemia: metabolic variation confounds the dose-response relationship.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 28, doi. 10.1023/A:1005301321635
- By:
- Publication type:
- Article
16
Social factors and the meaning of food in adherence to medical diets: results of a maternal phenylketonuria summer camp.
- Published in:
- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 1, p. 21, doi. 10.1023/A:1005349204797
- By:
- Publication type:
- Article
17
Inherited metabolic diseases affecting the carrier.
- Published in:
- 1997
- By:
- Publication type:
- Book Review