Publication
Incidence of maple syrup urine disease in Portugal
| dc.contributor.author | Quental, Sofia | |
| dc.contributor.author | Vilarinho, Laura | |
| dc.contributor.author | Martins, Esmeralda | |
| dc.contributor.author | Teles, Elisa Leão | |
| dc.contributor.author | Rodrigues, Esmeralda | |
| dc.contributor.author | Diogo, Luísa | |
| dc.contributor.author | Garcia, Paula | |
| dc.contributor.author | Eusébio, Filomena | |
| dc.contributor.author | Gaspar, Ana | |
| dc.contributor.author | Sequeira, Sílvia | |
| dc.contributor.author | Amorim, António | |
| dc.contributor.author | Prata, Maria João | |
| dc.date.accessioned | 2011-09-14T12:41:32Z | |
| dc.date.available | 2011-09-14T12:41:32Z | |
| dc.date.issued | 2010-08 | |
| dc.description.abstract | Maple syrup urine disease is an autosomal recessive disorder of branched-chain amino acids metabolism with a worldwide frequency of 1/185,000 live newborns. In Portugal, the incidence of the disease has not been assessed. Based on the review of the cases diagnosed by tandem mass spectrometry an incidence of 1/86,800 live newborns was estimated in Portugal, indicating that the disease is more frequent in this country than reported in most populations. | por |
| dc.identifier.citation | Mol Genet Metab. 2010 Aug;100(4):385-7. Epub 2010 Apr 22 | por |
| dc.identifier.issn | 1096-7192 | |
| dc.identifier.other | doi:10.1016/j.ymgme.2010.04.007 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/169 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Elsevier | por |
| dc.relation.publisherversion | http://www.sciencedirect.com/science/article/pii/S1096719210001526 | por |
| dc.subject | Maple syrup urine disease | por |
| dc.subject | Portugal | por |
| dc.subject | Incidence | por |
| dc.subject | Doenças Genéticas | por |
| dc.title | Incidence of maple syrup urine disease in Portugal | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 387 | por |
| oaire.citation.startPage | 385 | por |
| oaire.citation.title | Molecular Genetics and Metabolism | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |
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