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Incidence of maple syrup urine disease in Portugal.

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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Quental S,Vilarinho L,Martins E,Teles EL,Rodrigues E,Diogo L,Garcia P,Eusébio F,Gaspar A,Sequeira S,Amorim A,Prata MJ

doi

10.1016/j.ymgme.2010.04.007

subject

Has Abstract

pub_date

2010-08-01 00:00:00

pages

385-7

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(10)00152-6

journal_volume

100

pub_type

杂志文章

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