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Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

Branched-chain amino acid (BCAA) metabolism plays a central role in the pathophysiology of both rare inborn errors of metabolism and the more common multifactorial diseases. Although deficiency of the branched-chain ketoacid dehydrogenase (BCKDC) and associated elevations in the BCAAs and their keto...

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Autors principals: Burrage, Lindsay C., Nagamani, Sandesh C.S., Campeau, Philippe M., Lee, Brendan H.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4170715/
https://ncbi.nlm.nih.gov/pubmed/24651065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu123
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