经典型枫糖尿症：辅因子抵抗 - Suppr

Classical maple syrup urine disease: cofactor resistance.

作者信息

Elsas L J, Pask B A, Wheeler F B, Perl D P, Truster S

出版信息

Metabolism. 1972 Oct;21(10):929-44. doi: 10.1016/0026-0495(72)90027-3.

DOI:10.1016/0026-0495(72)90027-3

PMID:4342010

Abstract

摘要

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Classical maple syrup urine disease: cofactor resistance.

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Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.

Hum Genet. 1984;68(1):54-6. doi: 10.1007/BF00293872.

Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.

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Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line.

J Inherit Metab Dis. 1991;14(1):37-44. doi: 10.1007/BF01804386.

Mild variant of maple syrup urine disease.

Eur J Pediatr. 1976 Dec 9;124(1):31-6. doi: 10.1007/BF00452411.

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Classical maple syrup urine disease: cofactor resistance.

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Classical maple syrup urine disease: cofactor resistance.

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