Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD)

Introduction: Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by a blockage of branched-chain keto acid of BCAA (branched-chain keto acid dehydrogenase, BCKDH) leading to neurological damage induced by accumulation of leucine and metabolites. MSUD expenditure and energy re...

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Bibliografische gegevens
Gepubliceerd in:JIMD Rep
Hoofdauteurs: Campo, Karen, Castro, Gabriela, Hamilton, Valerie, Cabello, Juan Francisco, Raimann, Erna, Arias, Carolina, Cornejo, Verónica
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Berlin Heidelberg 2015
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4864776/
https://ncbi.nlm.nih.gov/pubmed/26458887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_500
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