3-羟基-3-甲基戊二酸尿症：3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症。
3-Hydroxy-3-methylglutaric aciduria: deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase.
作者信息
Wysocki S J, Hähnel R
出版信息
Clin Chim Acta. 1976 Sep 6;71(2):349-51. doi: 10.1016/0009-8981(76)90552-0.
PMID:963901
Abstract
A marked deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase activity is present in cultured skin fibroblasts from a baby with 3-hydroxy-3-methylglutaric aciduria.
摘要
一名患有3-羟基-3-甲基戊二酸尿症的婴儿的培养皮肤成纤维细胞中存在明显的3-羟基-3-甲基戊二酰辅酶A裂解酶活性缺乏。
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