Publicação
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening
| dc.contributor.author | Vilarinho, L. | |
| dc.contributor.author | Sales Marques, J. | |
| dc.contributor.author | Rocha, H. | |
| dc.contributor.author | Ramos, A. | |
| dc.contributor.author | Lopes, L. | |
| dc.contributor.author | Narayan, S.B. | |
| dc.contributor.author | Bennett, M.J. | |
| dc.date.accessioned | 2012-10-24T16:37:00Z | |
| dc.date.available | 2012-10-24T16:37:00Z | |
| dc.date.issued | 2012 | |
| dc.description.abstract | Medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a rare cause of impaired mitochondrial fatty acid oxidation. We present a case report of a patient with hyperinsulinism and homozygosity for a novel mutation causing a kinetic variant of the enzyme. The diagnosis was initially inferred by abnormal newborn screening acylcarnitine analysis with elevated C4-hydroxyacylcarnitine. | por |
| dc.identifier.citation | Mol Genet Metab. 2012 Jul;106(3):277-80. doi: 10.1016/j.ymgme.2012.04.005. Epub 2012 Apr 13. | por |
| dc.identifier.issn | 1096-7192 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/1053 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Elsevier | por |
| dc.relation.publisherversion | http://www.sciencedirect.com/science/article/pii/S1096719212001485 | por |
| dc.subject | SCHAD deficiency | por |
| dc.subject | Acylcarnitine analysis | por |
| dc.subject | Doenças Genéticas | por |
| dc.title | Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 280 | por |
| oaire.citation.startPage | 277 | por |
| oaire.citation.title | Molecular Genetics and Metabolism | por |
| oaire.citation.volume | 106(3) | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |