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