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pro vyhledávání: '"José S. Camelo Jr"'
Autor:
Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva Jr, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Döederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb‐Ludwig, Ester S. Borges, José S. Camelo Jr
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
ABSTRACT Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial comple
Externí odkaz:
https://doaj.org/article/8cd15723dba14972b937aae7e4a418b1