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Dermatological and soft-tissue manifestations of Fabry disease ...
Early manifestations of Fabry disease include dermatological and soft-tissue symptoms, such as angiokeratomas, acroparaesthesia, abnormal sweating (hypohidrosis and hyperhidrosis) and …
Fabry disease - DermNet
2019年6月4日 · Fabry disease is a rare inherited lysosomal storage disorder [1]. It is also known as Anderson–Fabry disease and angiokeratoma corporis diffusum. Fabry disease causes …
Fabry Disease: Symptoms & Causes - Cleveland Clinic
Fabry disease affects your heart, kidneys, brain, central nervous system and skin. Other names for the condition are Anderson-Fabry disease, Fabry’s disease and alpha-galactosidase-A …
Fabry Disease - StatPearls - NCBI Bookshelf - National Center for ...
2023年7月4日 · Angiokeratoma corporis diffusum is the typical skin lesion seen in Fabry disease and is linked to renal involvement, especially proteinuria. Young adults presenting with a …
Fabry Disease - Symptoms, Causes, Treatment | NORD
2019年6月6日 · Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α …
Fabry disease and the skin: data from FOS, the Fabry outcome …
The FOS database is a useful epidemiological tool in establishing the variety and relevance of cutaneous manifestations in Fabry disease. The present study confirms that the presence of …
Fabry Disease: Causes, Symptoms, and Treatment - WebMD
2024年11月28日 · When you have Fabry disease, a certain type of fatty substance builds up in the cells of your body. It narrows your blood vessels, which can hurt your skin, kidneys, heart, …
Fabry Disease - American Osteopathic College of Dermatology …
Fabry disease is a rare X-linked disorder estimated to have an occurrence of 1:40,000. This means that it is a genetic condition passed from one generation to the next on the "X” …
Fabry Disease - GeneReviews® - NCBI Bookshelf - National …
2002年8月5日 · Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (α-Gal A), leading to progressive …
Dermatologic Aspects of Fabry Disease - Paula C. Luna, Paula …
2016年10月3日 · Dermatologists must have a high index of suspicion, especially when skin features are associated with other earlier symptoms such as acroparesthesia, hypohidrosis, or …
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