Maple syrup urine disease: a possible bi
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Yasuhiro Indo; Izumi Akaboshi; Yoshitaka Nobukuni; Fumio Endo; Ichiro Matsuda
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Article
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1988
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Springer
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English
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Nine patients with maple syrup urine disease (MSUD), of whom eight were detected by mass-screening of neonates for inherited metabolic desease, were studied to determine possible relationships between clinical features and properties of the branched-chain c~-keto acid dehydrogenase complex (BCKDH) i