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Clinical and Biochemical Profiles of Maple Syrup Urine Disease in Malaysian Children

Introduction: Maple Syrup Urine Disease (MSUD) is an autosomal recessive disorder caused by defects in the branched-chain α-ketoacid dehydrogenase complex resulting in accumulation of branched-chain amino acids (BCAAs) and corresponding branched-chain ketoacids (BCKAs) in tissues and plasma, which a...

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Detalhes bibliográficos
Main Authors: Yunus, Z Md., Kamaludin, DP Abg, Mamat, M, Choy, Y S, Ngu, LH
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509910/
https://ncbi.nlm.nih.gov/pubmed/23430924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_105
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