Works matching IS 01418955 AND DT 2001 AND VI 24 AND IP 1
Results: 16
Metabolic Diseases: Foundations of Clinical Management, Genetics and Pathology.
- Published in:
- 2001
- By:
- Publication type:
- Book Review
Mutation spectrum in patients with fructose-1,6-bisphosphatase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 87, doi. 10.1023/A:1005691730058
- By:
- Publication type:
- Article
Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 85, doi. 10.1023/A:1005635629149
- By:
- Publication type:
- Article
Survival of two patients with severe δ-aminolaevulinic acid dehydratase deficiency porphyria.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 60, doi. 10.1023/A:1005610922789
- By:
- Publication type:
- Article
Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 83, doi. 10.1023/A:1005627311402
- By:
- Publication type:
- Article
Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 79, doi. 10.1023/A:1005667024606
- By:
- Publication type:
- Article
Congenital porto–left renal venous shunt as a cause of galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 72, doi. 10.1023/A:1005615023698
- By:
- Publication type:
- Article
Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 65, doi. 10.1023/A:1005662906859
- By:
- Publication type:
- Article
Carnitine palmitoyltransferase I deficiency in neonate identified by dried blood spot free carnitine and acylcarnitine profile.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 51, doi. 10.1023/A:1005606805951
- By:
- Publication type:
- Article
A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 81, doi. 10.1023/A:1005671109585
- By:
- Publication type:
- Article
Genetic analysis of phytosterolaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 43, doi. 10.1023/A:1005650605042
- By:
- Publication type:
- Article
Features of carnitine palmitoyltransferase type I deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 35, doi. 10.1023/A:1005694320063
- By:
- Publication type:
- Article
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenone.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 28, doi. 10.1023/A:1005642302316
- By:
- Publication type:
- Article
Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 5, doi. 10.1023/A:1005682017337
- By:
- Publication type:
- Article
Phenylketonuria: Tyrosine beyond the phenylalanine-restricted diet.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 1, doi. 10.1023/A:1005689232358
- By:
- Publication type:
- Article
Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 1, p. 15, doi. 10.1023/A:1005638218246
- By:
- Publication type:
- Article