A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene
Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid,...
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| Main Authors: | , , , , , , , |
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| Format: | Book |
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Mashhad University of Medical Sciences,
2017-09-01T00:00:00Z.
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