Works matching IS 01418955 AND DT 2000 AND VI 23 AND IP 6
Results: 12
Smith–Lemli–Opitz syndrome with extremely low plasma cholesterol.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 638, doi. 10.1023/A:1005646400244
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- Article
Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 636, doi. 10.1023/A:1005642316174
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- Article
False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 634, doi. 10.1023/A:1005690215265
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- Article
Clinical significance of brain phenylalanine concentration assessed by in vivo proton magnetic resonance spectroscopy in phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 563, doi. 10.1023/A:1005621727560
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- Article
Rolipram does not normalize very long-chain fatty acid levels in adrenoleukodystrophy protein-deficient fibroblasts and mice.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 615, doi. 10.1023/A:1005686114356
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- Article
Lovastatin does not correct the accumulation of very long-chain fatty acids in tissues of adrenoleukodystrophy protein-deficient mice.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 607, doi. 10.1023/A:1005634130286
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- Article
Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cells.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 583, doi. 10.1023/A:1005677912539
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- Article
Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 571, doi. 10.1023/A:1005673828469
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- Article
Biochemical and molecular basis for mitochondrial cardiomyopathy in neonates and children.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 625, doi. 10.1023/A:1005638231195
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- Article
Behaviour and school achievement in patients with early and continuously treated phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 548, doi. 10.1023/A:1005669610722
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- Article
Isolated and contiguous glycerol kinase gene disorders: A review.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 529, doi. 10.1023/A:1005660826652
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- Article
Isolation and characterization of the normal canine β-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.
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- Journal of Inherited Metabolic Disease, 2000, v. 23, n. 6, p. 593, doi. 10.1023/A:1005630013448
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- Article