Fabry's Disease information sheet compiled by NINDS.
www.ninds.nih.gov/health_and_medical/disorders/fabrys_doc.htm
An ongoing observational database that tracks the natural history and outcomes of patients with Fabry disease.
www.lsdregistry.net/fabryregistry
Refsum disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
www.ninds.nih.gov/health_and_medical/disorders/refsum_doc.htm
Fabry's disease is a fat storage disorder caused by a deficiency of an enzyme involved in the biodegradation of lipids.
healthlink.mcw.edu/article/921727118.html
Skip to content Search Advanced Search Site Map About MEDLINEplus Home Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk Bl-Bz C-Cg Ch-Co Cp-Cz D-Di Dj-Dz E-Ep Eq-Ez F G H-Hf Hg-Hz I-In Io-Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn To-Tz U V W X Y Z 0-9 Familial combined hyperlipidemia Contents of this page: Illustrations Alternative names ...
www.nlm.nih.gov/medlineplus/ency/article/000396.htm
Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at the National Institutes of Health (NIH).
www.ncbi.nlm.nih.gov/disease/tangier.html
Metabolic Disease & Stroke: Fabry Disease - Fabry disease is an X-linked lysosomal disorder that leads to excessive deposition of neutral glycosphingolipids in the vascular endothelium of several organs in the body. Progressive endothelial accumulation of glycosphingolipids accounts for the associated clinical abnormalities of skin, eye, kidney, heart, brain, and peripheral nervous system. When ...
www.emedicine.com/neuro/topic579.htm
At Advanced Cardiac Specialists, we believe that how we care determines who we are. That is why a dedicated team of physicians and staff works round the clock to put our adage into practice every single day: Leading-edge medicine in everyday care ...
www.advancedcardiac.com/hyperlipidemia.htm
Finding a cure for RP (retinitis pigmentosa), macular degeneration, Usher syndrome, and other retinal degenerations ...
www.srpf.a.se/forsk/refsum.html
Tangier Disease by Jackie Newman Tangier Disease is an extremely rare autosomal recessive metabolic disorder. Documentation shows that as of 1988, 27 cases of Tangier Disease had been reported (Makrides pg.465) and in 1992 the reported cases were still fewer than 50 persons worldwide (Thoene pg.265). The majority of the cases tend to localize in one single area of the U.S., Tangier Island, ...
www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/J.%20Newman1.html
CASE REPORTS January 1998, Volume 14 Number 1 : 81-84 Cardiac transplantation for Fabry's disease WJ Cantor, P Daly, M Iwanochko, JTR Clarke, RJ Cusimano, J Butany Fabry's disease is a rare cause of cardiomyopathy. There are no previous reported cases of cardiac transplantation for end-stage cardiomyopathy secondary to Fabry's disease. Recurrence of disease in allografts ...
webserver.pulsus.com/CARDIOL/14_01/cant_ed.htm
