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pro vyhledávání: '"Jessica Kopesky"'
Autor:
Emily Singh, Young‐In Chi, Jessica Kopesky, Michael Zimmerman, Raul Urrutia, Donald Basel, Jessica Scott Schwoerer
Publikováno v:
JIMD Reports, Vol 65, Iss 3, Pp 144-155 (2024)
Abstract Maple syrup urine disease (MSUD) is a disorder of branched‐chain amino acid metabolism caused by a defect in the branched‐chain α‐ketoacid dehydrogenase (BCKD) complex (OMIM #248600). The hallmark presentation is encephalopathic crisi
Externí odkaz:
https://doaj.org/article/1bbb80272f694cd2b8e744dcf6960708