Fabry's disease (angiokeratoma corporis diffusum): case report on a rare disease.

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作者信息

Dempsey H, Hartley M W, Carroll J, Balint J, Miller R E, Frommeyer W B

出版信息

Ann Intern Med. 1965 Dec;63(6):1059-68. doi: 10.7326/0003-4819-63-6-1059.

DOI:10.7326/0003-4819-63-6-1059

PMID:5844564

Abstract

摘要

相似文献

Fabry's disease (angiokeratoma corporis diffusum): case report on a rare disease.

Ann Intern Med. 1965 Dec;63(6):1059-68. doi: 10.7326/0003-4819-63-6-1059.

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The renal lesion in angiokeratoma corporis diffusum (Fabry's disease).弥漫性躯体血管角质瘤（法布里病）中的肾脏病变。

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[Fabry's disease. General review apropos of a case].

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引用本文的文献

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.法布里病中尿调节蛋白的异常表达和加工反映了肾小管细胞储存改变，且可通过酶替代疗法逆转。

J Inherit Metab Dis. 2008 Aug;31(4):508-17. doi: 10.1007/s10545-008-0900-3. Epub 2008 Jul 27.

Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy.伴有肢端肥大症和独特血管病变的法布里病的尸检诊断

Virchows Arch. 2007 Sep;451(3):721-7. doi: 10.1007/s00428-007-0456-x. Epub 2007 Jul 12.

Clinical and electron microscopic studies of a case of glycolipid lipoidosis (Fabry's disease).一例糖脂类脂沉积症（法布里病）的临床及电子显微镜研究

J Clin Pathol. 1967 Jan;20(1):21-7. doi: 10.1136/jcp.20.1.21.

Gut lesions in Fabry's disease without a rash.无皮疹的法布里病肠道病变

Arch Dis Child. 1972 Feb;47(251):26-33. doi: 10.1136/adc.47.251.26.

Short P-R intervals and tachyarrhythmias in Fabry's disease.法布里病中的短P-R间期和快速性心律失常

Postgrad Med J. 1986 Oct;62(732):969. doi: 10.1136/pgmj.62.732.969.

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