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Maple syrup urine disease: Clinical and biochemical significance of gene analysis

โœ Scribed by Y. Nobukuni; H. Mitsubuchi; I. Akaboshi; Y. Indo; F. Endo; I. Matsuda


Book ID
112630980
Publisher
Springer
Year
1991
Tongue
English
Weight
532 KB
Volume
14
Category
Article
ISSN
0141-8955

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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