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    Maple syrup urine disease: Mutation analysis in Turkish patients

    Maple syrup urine disease (MSUD), the most frequently occurring organic acidaemia in Turkey, is caused by a deficiency of the activity of branched-chain keto acid dehydrogenase enzyme (BCKAD) complex. Mutation...

    A. Dursun, M. Henneke, K. Özgül, J. Gartner… in Journal of Inherited Metabolic Disease (2002)