Works matching IS 01418955 AND DT 2004 AND VI 27 AND IP 1
Results: 16
Instructions to Authors.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 319
- Publication type:
- Article
Editorial.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. iii
- Publication type:
- Article
Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 105
- By:
- Publication type:
- Article
The distribution of white blood cell fat oxidation in health and disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 89
- By:
- Publication type:
- Article
TaySachs disease in Brazilian patients: Prevalence of the IVS7+1g>c mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 109
- By:
- Publication type:
- Article
Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 1
- By:
- Publication type:
- Article
Energy expenditure in patients with propionic and methylmalonic acidaemias.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 111
- By:
- Publication type:
- Article
Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 57
- By:
- Publication type:
- Article
Differential diagnosis of neonatal mild hypergalactosaemia detected by mass screening: Clinical significance of portal vein imaging.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 11
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- Publication type:
- Article
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype?
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 81
- By:
- Publication type:
- Article
CDG IIx with unusual phenotype.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 103
- By:
- Publication type:
- Article
A family showing recessively inherited multisystem pathology with aberrant splicing of the erythrocyte Band 7.2b ('stomatin') gene.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 29
- By:
- Publication type:
- Article
Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper?
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 67
- By:
- Publication type:
- Article
Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 19
- By:
- Publication type:
- Article
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 47
- By:
- Publication type:
- Article
Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient.
- Published in:
- Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 101
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- Publication type:
- Article