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词汇 Angiokeratoma corporis diffusum universale
分类 英语词汇 英语翻译词典
释义

Angiokeratoma corporis diffusum universale

英语百科

Fabry disease

A bilateral, whorl-like corneal pattern of cream -colored lines in a patient with Fabry disease
Angiokeratoma, a common dermatological manifestation in Fabry sufferers

Fabry disease (/ˈfɑːbri/) (also known as Fabry's disease, Anderson-Fabry disease, angiokeratoma corporis diffusum, and alpha-galactosidase A deficiency) is a rare genetic lysosomal storage disease, inherited in an X-linked manner. Fabry disease can cause a wide range of systemic symptoms. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. The disease is named after one of its discoverers, Johannes Fabry (June 1, 1860 – June 29, 1930).

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