Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 2
Results: 17
Organelle Diseases: clinical features, diagnosis, pathogenesis and management. Edited by D. A. Applegarth, J. E. Dimmick and J. G. Hall.
- Published in:
- 1998
- By:
- Publication type:
- Book Review
Pathogenesis of different clinical outcomes in spite of identical genotypes and comparable blood phenylalanine concentrations in phenylketonurics.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 181, doi. 10.1023/A:1005328717095
- By:
- Publication type:
- Article
Impaired DNA synthesis in dermal fibroblasts from Zellweger syndrome patients.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 179, doi. 10.1023/A:1005376600257
- By:
- Publication type:
- Article
Maple syrup urine disease: Nutritional management by intravenous hyperalimentation and uneventful course after surgical repair of dislocation of the hip.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 177, doi. 10.1023/A:1005324516186
- By:
- Publication type:
- Article
Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 175, doi. 10.1023/A:1005372432116
- By:
- Publication type:
- Article
Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 173, doi. 10.1023/A:1005304015278
- By:
- Publication type:
- Article
Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 167, doi. 10.1023/A:1005351927573
- By:
- Publication type:
- Article
A novel mutation found in an adrenoleukodystrophy patient who underwent bone marrow transplantation.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 162, doi. 10.1023/A:1005399810735
- By:
- Publication type:
- Article
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 155, doi. 10.1023/A:1005347826664
- By:
- Publication type:
- Article
Niemann–Pick disease type C and defective peroxisomal β-oxidation of branched-chain substrates.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 149, doi. 10.1023/A:1005395709826
- By:
- Publication type:
- Article
Two new mutations in the 3′ coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 141, doi. 10.1023/A:1005343625756
- By:
- Publication type:
- Article
Improvement in exercise tolerance in isovaleric acidaemia with L-carnitine therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 136, doi. 10.1023/A:1005391508917
- By:
- Publication type:
- Article
Executive function in treated phenylketonuria as measured by the one-back and two-back versions of the continuous performance test.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 125, doi. 10.1023/A:1005339524847
- By:
- Publication type:
- Article
The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I).
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 112, doi. 10.1023/A:1005387408009
- By:
- Publication type:
- Article
Varicella and varicella immunity in patients with lysinuric protein intolerance.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 103, doi. 10.1023/A:1005335423939
- By:
- Publication type:
- Article
Intravenous immune globulin in lysinuric protein intolerance.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 95, doi. 10.1023/A:1005383307100
- By:
- Publication type:
- Article
Pregnancy in a woman with maple syrup urine disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 2, p. 89, doi. 10.1023/A:1005396823030
- By:
- Publication type:
- Article