Inborn errors of purine and pyrimidine metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 247, doi. 10.1007/s10545-009-1094-z
- By:
- Publication type:
- Article
Works matching IS 01418955 AND DT 2009 AND VI 32 AND IP 2
Results: 20
1
2
Measurement of d-2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from d-2-hydroxyglutaric aciduria patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 264, doi. 10.1007/s10545-009-1104-1
- By:
- Publication type:
- Article
3
Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 289, doi. 10.1007/s10545-009-1080-5
- By:
- Publication type:
- Article
4
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B<sub>12</sub>.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 159, doi. 10.1007/s10545-009-1023-1
- By:
- Publication type:
- Article
5
Children with cataract and chronic diarrhoea: Cerebrotendinous xanthomatosis.
- Published in:
- 2009
- By:
- Publication type:
- Letter
6
Animal models of maple syrup urine disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 229, doi. 10.1007/s10545-009-1086-z
- By:
- Publication type:
- Article
7
Developmental changes of oxalate excretion in enterally fed preterm infants.
- Published in:
- 2009
- By:
- Publication type:
- Correction Notice
8
A data-mining approach to rank candidate protein-binding partners—The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1).
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 190, doi. 10.1007/s10545-008-1014-7
- By:
- Publication type:
- Article
9
Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 214, doi. 10.1007/s10545-009-1087-y
- By:
- Publication type:
- Article
10
Re: Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study.
- Published in:
- 2009
- By:
- Publication type:
- Letter
11
New treatment paradigms in neonatal metabolic epilepsies.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 204, doi. 10.1007/s10545-009-1045-8
- By:
- Publication type:
- Article
12
Metabolic programming: Role of nutrition in the immediate postnatal life.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 218, doi. 10.1007/s10545-008-1033-4
- By:
- Publication type:
- Article
13
Different dose-dependent correction of MIP-1β and chitotriosidase during initial enzyme replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 274, doi. 10.1007/s10545-009-1064-5
- By:
- Publication type:
- Article
14
Organelle dynamics and dysfunction: A closer link between peroxisomes and mitochondria.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 163, doi. 10.1007/s10545-008-1018-3
- By:
- Publication type:
- Article
15
Abnormal bradykinin signalling in fibroblasts deficient in the PIP<sub>2</sub> 5-phosphatase, ocrl1.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 280, doi. 10.1007/s10545-009-1058-3
- By:
- Publication type:
- Article
16
Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 269, doi. 10.1007/s10545-009-1061-8
- By:
- Publication type:
- Article
17
Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease.
- Published in:
- 2009
- By:
- Publication type:
- Letter
18
Pathogenic cascades in lysosomal disease—Why so complex?
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 181, doi. 10.1007/s10545-008-1040-5
- By:
- Publication type:
- Article
19
l-2-Hydroxyglutaric aciduria, a disorder of metabolite repair.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 135, doi. 10.1007/s10545-008-1042-3
- By:
- Publication type:
- Article
20
Clinical and molecular features of mitochondrial DNA depletion syndromes.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 2, p. 143, doi. 10.1007/s10545-008-1038-z
- By:
- Publication type:
- Article