Images in cardiology. Fabry's disease, an X-linked recessive condition, can have isolated cardiac manifestations in heterozygote females.
作者信息
Lindsay A C, Behar J M, McEwan J
出版信息
Heart. 2006 May;92(5):685. doi: 10.1136/hrt.2005.075085.
Abstract
摘要
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1
Images in cardiology. Fabry's disease, an X-linked recessive condition, can have isolated cardiac manifestations in heterozygote females.心脏病学影像。法布里病是一种X连锁隐性疾病，杂合子女性可能有孤立的心脏表现。
Heart. 2006 May;92(5):685. doi: 10.1136/hrt.2005.075085.
2
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Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).一个患有心脏法布里病的日本家庭的临床和遗传学研究。鉴定出一种新的α-半乳糖苷酶A错义突变（G195V）。
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Fabry's disease presenting with stroke.以中风为表现的法布里病。
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High incidence of thrombosis in Fabry's disease.法布里病中血栓形成的高发生率。
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A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene.一例有症状的杂合子女性法布里病患者，其α-半乳糖苷酶基因未检测到突变。
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