Maple syrup urine disease: mechanisms and management

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloi...

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Dades bibliogràfiques
Publicat a:Appl Clin Genet
Autors principals: Blackburn, Patrick R, Gass, Jennifer M, Vairo, Filippo Pinto e, Farnham, Kristen M, Atwal, Herjot K, Macklin, Sarah, Klee, Eric W, Atwal, Paldeep S
Format: Artigo
Idioma:Inglês
Publicat: Dove Medical Press 2017
Matèries:
Review
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5593394/
https://ncbi.nlm.nih.gov/pubmed/28919799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S125962
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