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Autor:
Hémelin R, Farias, Joice R, Gabriel, Maria Laura, Cecconi, Isabela S, Lemos, Victoria L, de Rezende, Letícia B, Wessler, Mariane B, Duarte, Giselli, Scaini, Jade, de Oliveira, Emilio L, Streck
Publikováno v:
Metabolic brain disease. 36(1)
Maple syrup urine disease (MSUD) is characterized by a deficiency in the mitochondrial branched-chain α-keto acid dehydrogenase complex activity and, consequently, accumulation of the branched-chain amino acids and their respective branched-chain α