Barth综合征1例

韩慰, 何蓉, 蒋莉, 等. Barth综合征1例[J]. 临床心血管病杂志, 2016, 32(10): 1067-1069. doi: 10.13201/j.issn.1001-1439.2016.10.024
引用本文: 韩慰, 何蓉, 蒋莉, 等. Barth综合征1例[J]. 临床心血管病杂志, 2016, 32(10): 1067-1069. doi: 10.13201/j.issn.1001-1439.2016.10.024
HAN Wei, HE Rong, JIANG Li, et al. A case report of Barth syndrome[J]. J Clin Cardiol, 2016, 32(10): 1067-1069. doi: 10.13201/j.issn.1001-1439.2016.10.024
Citation: HAN Wei, HE Rong, JIANG Li, et al. A case report of Barth syndrome[J]. J Clin Cardiol, 2016, 32(10): 1067-1069. doi: 10.13201/j.issn.1001-1439.2016.10.024

Barth综合征1例

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  • 中图分类号: R542.2

A case report of Barth syndrome

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  • [1]

    BARTH P G,SCHOLTE H R,BERDEN J A,et al.An X-linked mitochondrial disease affecting cardiac muscle,skeletal muscle and neutrophil leucocytes[J].Neurol Sci,1983,62:327-355.

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    BOHUIS P A,HENSELS G W,HULSEBOS T J,et al.Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria(Barth syndrome)to Xq28[J].Am J Hum Genet,1991,48:481-485.

    [3]

    GONZALVEZ F,D'AURELIO M,BOUTANT M,et al.Barth syndrome:cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin(TAZ)gene mutation[J].Biochim Biophys Acta,2013,1832:1194-1206.

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    石琳,傅立军,黄美容,等.Barth综合征3例临床表现及基因突变分析[J].临床儿科杂志,2015,33(7):614-617.

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    SPENCER C T,BYRNE B J,GEWITZ M H,et al.Ventriculararrhythmia in the X-linked cardiomyopathy Barth Syndrome.Pediatr Cardiol[J].2005,26:632-637.

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    SPENCER C T,BRYANT R M,DAY J,et al.Cardiac and clinical phenotype in Barth syndrome[J].Pediatrics,2006,118:e337-e346.

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    ROBERTS A E,NIXON C,STEWARD C G,et al.The Barth syndrome registry:distinguishing disease characteristics and growth data from a longitudinal study[J].Am J Med Genet A,2012,158A:2726-2732.

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    RIGAUD C,LEBRE A S,TOURAINE R,et al.Natural history of Barth syndrome:a national cohort study of 22patients[J].Orphanet J Rare Dis,2013,8:70.doi:10.1186/1750-1172-8-70.

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    SCHMIDT M R,BIRKEBAEK N,GONZALEZ I,et al.Barth syndrome without 3-methylglutaconic aciduria[J].Acta Paediatr,2004,93:419-421.

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    张开慧,吕昕.3-甲基戊烯二酸尿症研究进展[J].中国优生与遗传杂志,2015,23(7):4-6.

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    FERRI L,DONATI M A,FUNGHINI S,et al.New clinical and molecular insights on Barth syndrome[J].Orphanet Rare Dis,2013,8:27.doi:10.1186/1750-1172-8-27.

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    KANG S L,FORSEY J,DUDLEY D,et al.Clinical characteristics and outcomes of cardiomyopathyin Barth syndrome:The UK Experience[J].Pediatr Cardiol,2016,37:167-176.

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    REYNOLDS S.Successful management of Barth syndrome:a systematic review highlighting the importance of a flexible andmultidisciplinary approach[J].J Multidiscip Healthc,2015,8:345-348.

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出版历程
收稿日期:  2016-01-12
修回日期:  2016-03-21

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