枫糖尿症（支链酮酸尿症）的一种新变异型。临床与生化评估。 - Suppr

A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.

作者信息

Schulman J D, Lustberg T J, Kennedy J L, Museles M, Seegmiller J E

出版信息

Am J Med. 1970 Jul;49(1):118-24. doi: 10.1016/s0002-9343(70)80121-8.

DOI:10.1016/s0002-9343(70)80121-8

PMID:5431474

Abstract

摘要

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A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.

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Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.

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A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation.

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