Works matching IS 01418955 AND DT 2009 AND VI 32 AND IP 6
Results: 12
Erratum to: Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters.
- Published in:
- 2009
- By:
- Publication type:
- Correction Notice
Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 720, doi. 10.1007/s10545-009-1197-6
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- Publication type:
- Article
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 675, doi. 10.1007/s10545-009-1202-0
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- Publication type:
- Article
Remarkable differences: the course of life of young adults with galactosaemia and PKU.
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- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 706, doi. 10.1007/s10545-009-1253-2
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- Publication type:
- Article
Psychological aspects of patients with Fabry disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 745, doi. 10.1007/s10545-009-1254-1
- By:
- Publication type:
- Article
Heterozygous familial hypercholesterolaemia in childhood: Cardiovascular risk prevention.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 699, doi. 10.1007/s10545-009-1165-1
- By:
- Publication type:
- Article
Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 739, doi. 10.1007/s10545-009-1290-x
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- Publication type:
- Article
Effort bruising disclosing Gaucher disease in a 55-year-old non-Jewish woman.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 758, doi. 10.1007/s10545-009-1217-6
- By:
- Publication type:
- Article
Mitochondria and diabetes mellitus: untangling a conflictive relationship?
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 684, doi. 10.1007/s10545-009-1263-0
- By:
- Publication type:
- Article
Hydroxocobalamin dose escalation improves metabolic control in cblC.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 728, doi. 10.1007/s10545-009-1257-y
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- Publication type:
- Article
Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase ( l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 713, doi. 10.1007/s10545-009-1282-x
- By:
- Publication type:
- Article
Clinical and biochemical studies in mucopolysaccharidosis type II carriers.
- Published in:
- Journal of Inherited Metabolic Disease, 2009, v. 32, n. 6, p. 732, doi. 10.1007/s10545-009-1275-9
- By:
- Publication type:
- Article