Subject Index to Volume 26.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 829, doi. 10.1023/B:BOLI.0000010021.41761.a3
- Publication type:
- Article
Works matching IS 01418955 AND DT 2003 AND VI 26 AND IP 8
Results: 15
1
2
Author Index to Volume 26.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 825, doi. 10.1023/B:BOLI.0000010020.96912.8a
- Publication type:
- Article
3
Glycine N-methyltransferase deficiency: A new patient with a novel mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 745, doi. 10.1023/B:BOLI.0000009978.17777.33
- By:
- Publication type:
- Article
4
Newborn screening for cystic fibrosis: Science, legislation, and human values.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 725, doi. 10.1023/B:BOLI.0000009975.91855.cc
- By:
- Publication type:
- Article
5
Letters to the Editor.
- Published in:
- 2003
- Publication type:
- Letter
6
Homocystinuria due to cystathionine β-synthase deficiency: Novel biochemical findings and treatment efficacy.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 761, doi. 10.1023/B:BOLI.0000009963.88420.c2
- By:
- Publication type:
- Article
7
Two novel mutations in the gene for human α-mannosidase that cause α-mannosidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 819, doi. 10.1023/B:BOLI.0000010006.87571.48
- By:
- Publication type:
- Article
8
Analysis of organic acids after incubation with (16-<sup>2</sup>H<sub>3</sub>)palmitic acid in fibroblasts from patients with mitochondrial β-oxidation defects.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 795, doi. 10.1023/B:BOLI.0000009951.13315.66
- By:
- Publication type:
- Article
9
Niemann–Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 775, doi. 10.1023/B:BOLI.0000009950.81514.c8
- By:
- Publication type:
- Article
10
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 805, doi. 10.1023/B:BOLI.0000009949.65855.4c
- By:
- Publication type:
- Article
11
Hearing loss in Fabry disease: The effect of agalsidase alfa replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 787, doi. 10.1023/B:BOLI.0000009948.86528.72
- By:
- Publication type:
- Article
12
Neonatal screening for cystic fibrosis: France rises to the challenge.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 729, doi. 10.1023/B:BOLI.0000009921.42503.c2
- By:
- Publication type:
- Article
13
Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 816, doi. 10.1023/B:BOLI.0000010004.12053.5b
- By:
- Publication type:
- Article
14
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 813, doi. 10.1023/B:BOLI.0000010003.14113.af
- By:
- Publication type:
- Article
15
Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 8, p. 811, doi. 10.1023/B:BOLI.0000009992.78840.77
- By:
- Publication type:
- Article