一名患有心肌病和3-甲基戊二酸尿症男性的线粒体复合物缺陷 - Suppr

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超能文献

Mitochondrial complex deficiencies in a male with cardiomyopathy and 3-methylglutaconic aciduria.

作者信息

Besley G T, Lendon M, Broadhead D M, Till J, Heptinstall L E, Phillips B

机构信息

Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, UK.

出版信息

J Inherit Metab Dis. 1995;18(2):221-3. doi: 10.1007/BF00711772.

DOI:10.1007/BF00711772

PMID:7564252

Abstract

摘要

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Biochem Med Metab Biol. 1994 Feb;51(1):35-42. doi: 10.1006/bmmb.1994.1004.

Barth syndrome: clinical observations and genetic linkage studies.巴特综合征：临床观察与基因连锁研究

Am J Med Genet. 1994 Apr 15;50(3):255-64. doi: 10.1002/ajmg.1320500309.

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.与肥厚型心肌病和3-甲基戊二酸尿症相关的多种呼吸链异常。

Eur J Pediatr. 1993 Aug;152(8):665-70. doi: 10.1007/BF01955244.

3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.伊拉克犹太人群“视神经萎缩伴其他症状”（科斯特夫综合征）中的3-甲基戊二酸尿症

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