Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

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作者信息

Gibson K M, Cassidy S B, Seaver L H, Wanders R J, Kennaway N G, Mitchell G A, Spark R P

机构信息

Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, TX.

出版信息

J Inherit Metab Dis. 1994;17(3):291-4. doi: 10.1007/BF00711810.

DOI:10.1007/BF00711810

PMID:7807935

Abstract

摘要

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3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients.3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症：五例新患者报告。

J Inherit Metab Dis. 1988;11(1):76-87. doi: 10.1007/BF01800058.

3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method.

Clin Chim Acta. 1988 Jan 15;171(1):95-101. doi: 10.1016/0009-8981(88)90294-x.

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases.通过薄层色谱法对细胞提取物进行放射化学分析检测3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症，并鉴定三例新病例。

Clin Chem. 1990 Feb;36(2):297-303.

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