The Neuronal Ceroid Lipofuscinoses (Batten Disease). Edited by H. H. Goebel, S. E. Mole and B. D. Lake.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 853, doi. 10.1023/A:1005615808187
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- Publication type:
- Article
Works matching IS 01418955 AND DT 1999 AND VI 22 AND IP 7
Results: 18
1
2
Mutation analysis of the propionyl-CoA carboxylase α-subunit gene in four Japanese patients with propionic acidaemia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 851, doi. 10.1023/A:1005578612668
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- Article
3
Bone marrow transplantation in mucopolysaccharidosis type IIIA: A comparison of an early treated patient with his untreated sibling.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 849, doi. 10.1023/A:1005526628598
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- Publication type:
- Article
4
Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 846, doi. 10.1023/A:1005574511759
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- Publication type:
- Article
5
Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 845, doi. 10.1023/A:1005522527689
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- Publication type:
- Article
6
Artefactual pyruvate and 2-oxobutyrate produced by trimethylsilylation of methylmalonic and ethylmalonic acids in the presence of oxygen.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 821, doi. 10.1023/A:1005510224963
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- Publication type:
- Article
7
False negative thiosulphate screening test in a case of molybdenum cofactor deficiency.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 842, doi. 10.1023/A:1005518426781
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- Publication type:
- Article
8
A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 844, doi. 10.1023/A:1005570410851
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- Publication type:
- Article
9
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Neonatal manifestation at the first day of life presenting with tachypnoea.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 839, doi. 10.1023/A:1005514325872
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- Publication type:
- Article
10
Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 827, doi. 10.1023/A:1005562209034
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- Publication type:
- Article
11
Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 840, doi. 10.1023/A:1005566309942
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- Publication type:
- Article
12
Urinary organic acid screening in children with developmental language delay.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 815, doi. 10.1023/A:1005558108125
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- Publication type:
- Article
13
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 811, doi. 10.1023/A:1005506024055
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- Publication type:
- Article
14
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 802, doi. 10.1023/A:1005553907216
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- Publication type:
- Article
15
Nutritional deficiencies in a patient with glycogen storage disease type Ib.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 795, doi. 10.1023/A:1005549823146
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- Publication type:
- Article
16
Successful pregnancy in severe methylmalonic acidaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 788, doi. 10.1023/A:1005597722237
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- Publication type:
- Article
17
Towards metabolic sink therapy for mut methylmalonic acidaemia: Correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transfer.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 773, doi. 10.1023/A:1005593605399
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- Publication type:
- Article
18
Transcobalamin II deficiency with methylmalonic aciduria in three sisters.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 765, doi. 10.1023/A:1005507204491
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- Publication type:
- Article