Abstracts - SSIEM 42st Annual Symposium, Paris, France, 6-9 September, 2005.
- Published in:
- 2005
- Publication type:
- Abstract
Works matching IS 01418955 AND DT 2005 AND VI 28 AND IP 1
Results: 16
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Abstracts - SSIEM 42st Annual Symposium, Paris, France, 6-9 September, 2005.
- Published in:
- 2005
- Publication type:
- Abstract
3
Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 95, doi. 10.1007/s10545-005-1485-8
- By:
- Publication type:
- Article
4
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 69, doi. 10.1007/s10545-005-3676-8
- By:
- Publication type:
- Article
5
Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 57, doi. 10.1007/s10545-005-3677-7
- By:
- Publication type:
- Article
6
Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 81, doi. 10.1007/s10545-005-4160-1
- By:
- Publication type:
- Article
7
Monitoring enzyme replacement therapy in Fabry disease—Role of urine globotriaosylceramide.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 21, doi. 10.1007/s10545-005-4415-x
- By:
- Publication type:
- Article
8
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 13, doi. 10.1007/s10545-005-4416-9
- By:
- Publication type:
- Article
9
Two Japanese brothers with hereditary γ-glutamyl transpeptidase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 49, doi. 10.1007/s10545-005-4417-8
- By:
- Publication type:
- Article
10
Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: ‘Proof of principle’ in acid sphingomyelinase-deficient mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 1, doi. 10.1007/s10545-005-4418-7
- By:
- Publication type:
- Article
11
Screening for Menkes disease using the urine HVA/VMA ratio.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 89, doi. 10.1007/s10545-005-5083-6
- By:
- Publication type:
- Article
12
Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 99, doi. 10.1007/s10545-005-5084-5
- By:
- Publication type:
- Article
13
Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 103, doi. 10.1007/s10545-005-5085-4
- By:
- Publication type:
- Article
14
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. 35, doi. 10.1007/s10545-005-5263-4
- By:
- Publication type:
- Article
15
Publisher’s Announcement.
- Published in:
- Journal of Inherited Metabolic Disease, 2005, v. 28, n. 1, p. iii, doi. 10.1007/s10545-005-5823-7
- Publication type:
- Article
16
Erratum.
- Published in:
- 2005
- By:
- Publication type:
- Correction Notice