Works matching IS 01418955 AND DT 2001 AND VI 24 AND IP 4
Results: 14
SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 517, doi. 10.1023/A:1010598109582
- By:
- Publication type:
- Article
The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001.
- Published in:
- 2001
- Publication type:
- Book Review
SHORT REPORT: PKU adults and their return to diet: Predicting diet continuation and maintenance.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 515, doi. 10.1023/A:1010546000617
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- Publication type:
- Article
SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 513, doi. 10.1023/A:1010593916546
- By:
- Publication type:
- Article
CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 511, doi. 10.1023/A:1010541932476
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- Publication type:
- Article
CASE REPORT: A Korean girl with α-aminoadipic and α-ketoadipic aciduria accompanied with elevation of 2-hydroxyglutarate and glutarate.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 509, doi. 10.1023/A:1010589815638
- By:
- Publication type:
- Article
CASE REPORT: Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 507, doi. 10.1023/A:1010537831567
- By:
- Publication type:
- Article
CASE REPORT: Early-onset lysosomal glycogen storage disease with normal acid maltase.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 504, doi. 10.1023/A:1010585714729
- By:
- Publication type:
- Article
Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 493, doi. 10.1023/A:1010533730659
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- Publication type:
- Article
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 477, doi. 10.1023/A:1010581613821
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- Publication type:
- Article
Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 465, doi. 10.1023/A:1010529629750
- By:
- Publication type:
- Article
Glycine N -methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 448, doi. 10.1023/A:1010577512912
- By:
- Publication type:
- Article
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine β-synthase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 437, doi. 10.1023/A:1010525528842
- By:
- Publication type:
- Article
Effects of dietary cholesterol restriction in a feline model of Niemann–Pick type C disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 427, doi. 10.1023/A:1010588112003
- By:
- Publication type:
- Article