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 | 超能文献

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

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Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.伴有3-甲基戊二酸尿症的Pearson骨髓-胰腺综合征中线粒体呼吸链复合物的临床表现及酶活性：一例报告并文献复习

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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。

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3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.3-甲基戊二酸血症——50 个基因和 977 例患者的经验教训。

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Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria.一名患有3-甲基戊二酸尿症儿童的线粒体ATP合酶缺乏症

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3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'.伴有持续性代谢性酸中毒和“解偶联发作”的3-甲基戊二酸尿症

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3-Methylglutaconic aciduria: neonatal onset with lactic acidosis.3-甲基戊二酸尿症：新生儿期起病伴乳酸性酸中毒。

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3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.

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Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.肥厚型心肌病、白内障、发育迟缓、乳酸酸中毒：3-甲基戊二酸尿症的一种新型亚型

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Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia.一名患有线粒体肌病和心肌病但无眼肌麻痹患者的多个线粒体DNA缺失。

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3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy.3-甲基戊二酰辅酶A水合酶缺乏与扩张型心肌病的发生

Cardiol Res. 2014 Oct;5(5):158-162. doi: 10.14740/cr359w. Epub 2014 Oct 6.

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A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.一个患有巴斯综合征的波兰家族中的新型TAZ基因突变和嵌合体现象。

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Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

本文引用的文献

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An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.对人体骨骼肌线粒体呼吸链中复合物I-IV活性测量的评估。

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

2

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.

3

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria.