Fabry disease - Wikipedia, the free encyclopedia 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
Ziekte van Fabry - Wikipedia De ziekte van Fabry is een zeldzame erfelijke aandoening die behoort tot de zogenaamde lysosomale stapelingsziekten. De aandoening wordt ook ziekte van Anderson-Fabry, angiokeratoma corporis diffusum, syndroom van Ruiter-Pompen-Wyers, Ceramide trihexosido
Fabry Disease - Diseases & Conditions - Medscape Reference Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs and in epithelial and smooth muscle cells. Progressive endothelial accumulation of glycosphingol
Genetics of Fabry Disease - Diseases & Conditions - Medscape Reference Fabry disease is an X-linked lysosomal storage disease that is caused by deficient activity of lysosomal enzyme α -galactosidase A (α -Gal A). Most males with no α -Gal A activity develop the classic phenotype of Fabry disease, which affects multiple orga
Urinary System - YouTube High school level human anatomy lesson for the urinary system. To view the interactive version (has drag and drop anatomy activities, the menu along the top is active for quick jumps, search tool, and closed captioning) is at http://www.virtualhomeschoolg
List of Rare Pediatric Diseases by Type - Advice on Rare Diseases from About.com Heart Diseases Children can be born with heart defects (called congenital heart disease). They can also develop heart problems due to a genetic syndrome or an illness (called acquired heart disease). Congenital Heart Defects Coarctation of the Aorta Eisen
Reynaud's Disease - definition of Reynaud's Disease by Medical dictionary Raynaud's Disease Definition Raynaud's disease refers to a disorder in which the fingers or toes (digits) suddenly experience decreased blood circulation. It is characterized by repeated episodes of color changes of the skin of digits on cold exposure or
Lysosomal storage disease - Wikipedia, the free encyclopedia Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function.[1] Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fr
Fabry hastalığı - Vikipedi Fabry hastalığı ( Anderson-Fabry hastalığı, Angiokeratoma corporis diffusum ve alfa-galaktosidaz A eksikliği olarak da bilinir) nadir görülen X'e bağlı resesif kalıtılan lizozomal depo hastalığıdır. Geniş bir yelpazede sistemik semptomlara neden olabilir.
Fabry Disease - Medscape Reference 12 Jun 2013 ... Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of ...
