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
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 - Medscape Reference Genetics of Fabry Disease. Fabry disease is an X-linked lysosomal storage disease that is caused by deficient activity of lysosomal enzyme α -galactosidase A ...
OMIM Entry - # 301500 - FABRY DISEASE - OMIM - Online Mendelian Inheritance in Man 301500 - FABRY DISEASE - ANGIOKERATOMA CORPORIS DIFFUSUM;; ANDERSON-FABRY DISEASE;; HEREDITARY DYSTOPIC LIPIDOSIS;; ALPHA-GALACTOSIDASE A DEFICIENCY;; GLA DEFICIENCY;; CERAMIDE TRIHEXOSIDASE ... Contributors:
What is fabry disease | Fabry Support Group Australia Over many years, GL-3 slowly accumulates and builds up in the walls of blood vessels body fluids and the cells of many tissues, particularly the nerves, kidney, heart and eyes. Involvement of major organ systems such as the heart, kidney, skin and brain m
Fabry Disease - The Doctor's Doctor Fabry disease is a rare X-linked recessive lysosomal storage disease. Patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities. An 11-yea
Anderson-Fabry Disease | Doctor | Patient.co.uk Synonyms: Fabry's disease, alpha-galactosidase A deficiency, hereditary ... accumulation causing abnormalities in the skin, eye, kidney, heart, brain and ...
Fabry disease - RightDiagnosis.com - Right Diagnosis List of disease causes of Fabry disease, patient stories, diagnostic guides. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for Fabry disease. ... Causes of Fabry disease: The following medical conditions are some of
Fabry Disease - GeneReviews® - NCBI Bookshelf 2002年8月5日 - Fabry disease results from deficient activity of the enzyme ... A recent Cochrane review has also highlighted the generally poor quality of ...
Orphanet Journal of Rare Diseases | Full text | Fabry disease 跳到 Review - Fabry disease. Fabry's disease. Anderson-Fabry disease. Alpha-galactosidase A deficiency. Angiokeratoma corporis diffusum. Ceramide ...
