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Title: Incidence of maple syrup urine disease in Portugal
Authors: Quental, Sofia
Vilarinho, Laura
Martins, Esmeralda
Teles, Elisa Leão
Rodrigues, Esmeralda
Diogo, Luísa
Garcia, Paula
Eusébio, Filomena
Gaspar, Ana
Sequeira, Sílvia
Amorim, António
Prata, Maria João
Keywords: Maple syrup urine disease
Doenças Genéticas
Issue Date: Aug-2010
Publisher: Elsevier
Citation: Mol Genet Metab. 2010 Aug;100(4):385-7. Epub 2010 Apr 22
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.
Peer review: yes
ISSN: 1096-7192
Publisher Version:
Appears in Collections:DGH - Artigos em revistas internacionais

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