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
Fabry Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS) Fabry's Disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). ... Prepared by: Office of Communications and Public Liaison National Institute of Neurological Disorders and Stroke National Institutes of
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:
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
Treatment of Fabry disease - Evidence-Based Clinical Decision Support at the Point of Care Fabry disease, also called Anderson-Fabry disease, is the second most prevalent lysosomal storage disorder after Gaucher disease. It is an X-linked inborn error of the glycosphingolipid metabolic pathway. This results in accumulation of globotriaosyl
Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study - Full Text View - C CFDI STUDY with ENZYME REPLACEMENT THERAPY (ERT) Fabry disease is a rare, inherited, genetic condition due to a deficiency of an enzyme called alpha-galactosidase A. This enzyme deficiency causes the small blood vessels to accumulate a substance ...
Genetics of Fabry Disease Clinical Presentation Fabry disease should be considered in patients with the isolated features detailed below or in those who show signs of multisystemic involvement in a pattern consistent with renal, cardiac, and cerebrovascular involvement. A detailed and complete medical
NINDS Fabry Disease Information Page - National Institutes of Health 23 Sep 2013 ... Information sheet on this disease including treatment, prognosis and research.
Clinical features and diagnosis of Fabry disease Fabry disease, also called Anderson-Fabry disease, is the second most prevalent lysosomal storage disorder after Gaucher disease. It is an X-linked inborn error of the glycosphingolipid metabolic pathway. This results in accumulation of globotriaosyl
