Browsing by Author "Camelo, José S"

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    • Molecular basis of various forms of maple syrup urine disease in chilean patients 
      Campanholi, Diana Ruffato Resende; Margutti, Ana Vitoria Barban; Silva, Wilson A.; Garcia, Daniel F.; Molfetta, Greice A.; Marques, Adriana A.; Schwartz, Ida Vanessa Döederlein; Cornejo Espinoza, Verónica del Carmen; Hamilton Viollier, Valerie; Castro Chávez, Gabriela; Sperb Ludwig, Fernanda; Borges, Ester S.; Camelo, José S (Wiley, 2021)
      Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched-chain alpha-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a ...