Research article.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 0, doi. 10.1023/A:1017488432262
- Publication type:
- Article
Works matching IS 01418955 AND DT 2001 AND VI 24 AND IP 5
Results: 15
1
2
Increased fertility in a woman with classic galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 507, doi. 10.1023/A:1012432231353
- By:
- Publication type:
- Article
3
Neuroleptic malignant syndrome during zuclopenthixol therapy in X-linked cerebral adrenoleukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 605, doi. 10.1023/A:1012480130445
- By:
- Publication type:
- Article
4
Mucolipidosis II (I-cell disease) presenting as neonatal cholestasis.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 603, doi. 10.1023/A:1012428113606
- By:
- Publication type:
- Article
5
Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 601, doi. 10.1023/A:1012476029536
- By:
- Publication type:
- Article
6
Successful pregnancy outcome in atypical hyperglycinaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 599, doi. 10.1023/A:1012424012698
- By:
- Publication type:
- Article
7
Propionic acidaemia with basal ganglia stroke: Treatment of acute extrapyramidal symptoms with L-DOPA.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 596, doi. 10.1023/A:1012471928628
- By:
- Publication type:
- Article
8
Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 587, doi. 10.1023/A:1012419911789
- By:
- Publication type:
- Article
9
Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL-receptor-mediated endocytosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 577, doi. 10.1023/A:1012467827719
- By:
- Publication type:
- Article
10
Phenotype variability in 130 adult patients with respiratory chain disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 560, doi. 10.1023/A:1012415810881
- By:
- Publication type:
- Article
11
A case of PDH-E1α mosaicism in a male patient with severe metabolic lactic acidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 551, doi. 10.1023/A:1012463726810
- By:
- Publication type:
- Article
12
Decreased half-life of insulin-like growth factor I in Rabson–Mendenhall syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 546, doi. 10.1023/A:1012411709972
- By:
- Publication type:
- Article
13
Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 535, doi. 10.1023/A:1012459625902
- By:
- Publication type:
- Article
14
Very low-density lipoprotein apolipoprotein B-100 turnover in glycogen storage disease type Ia (von Gierke disease).
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 527, doi. 10.1023/A:1012407609063
- By:
- Publication type:
- Article
15
Mutation analysis in Turkish patients with hereditary fructose intolerance.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 5, p. 523, doi. 10.1023/A:1012423624993
- By:
- Publication type:
- Article