The enzyme defect in maple syrup urine disease (branched chain ketoaciduria).
作者信息
Seegmiller J E, Westall R G
出版信息
J Ment Defic Res. 1967 Dec;11(4):288-94. doi: 10.1111/j.1365-2788.1967.tb00233.x.
Abstract
摘要
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引用本文的文献
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Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects.
Biochem J. 1981 Oct 15;200(1):59-67. doi: 10.1042/bj2000059.
2
Maple syrup urine disease: branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts.
Biochem Genet. 1976 Aug;14(7-8):527-39. doi: 10.1007/BF00485832.
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Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids.
Am J Hum Genet. 1977 May;29(3):272-9.
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