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Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease()()

Maple syrup urine disease is caused by a deficiency in the branched chain ketoacid dehydrogenase (BCKAD) complex. This results in the accumulation of branched chain amino acids (BCAA) and branched chain ketoacids in the body. Even when aggressively treated with dietary restriction of BCAA, patients...

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Publicat a:Mol Genet Metab Rep
Autors principals: Chin, H.L., Aw, M.M., Quak, S.H., Huang, J., Hart, C.E., Prabhakaran, K., Goh, D.L.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4750575/
https://ncbi.nlm.nih.gov/pubmed/26937410
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.06.003
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