Citations for
1BCKDHA, BCKDHB, DBT, MSUD1A, MSUD1B, MSUD2
Mutational spectrum of maple syrup urine disease in Spain.
Rodriguez-Pombo P, Navarrete R, Merinero B, Gomez-Puertas P, Ugarte M.
Hum Mutat 27(7):715. 2006
2BCKDHA, BCKDHB, DBT, MSUD1A, MSUD1B, MSUD2
Lessons from genetic disorders of branched-chain amino acid metabolism.
Chuang DT, Chuang JL, Wynn RM.
J Nutr 136(1 Suppl):243S-9S. Review. 2006
3BCKDHA, BCKDHB, MSUD1A, MSUD1B
Heterogeneity of mutations in maple syrup urine disease (MSUD) : screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complex.
Nobukuni Y, et al.
Biochim Biophys Acta 1225 : 64-70. 1993
4MSUD1A, MSUD1B
Maple syrup urine disease : branched-chain keto-aciduria.
Dancis J, et al.
Pediatrics 25 : 72-79. 1960