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Fabry Disease - Articles

Fabry's disease and the kidney by Matt S. Posted Thu 06 May 2010 12:00am I read a nice review of Fabry’s disease recently, and was surprised to read that its prevalence in ESRD may be as high as 1-2%. That figure is likely an underestimate, given the frequent failure to screen for the disease in patients with nephropathy and other common symptoms. Since a recombinant enzyme to replace missing the endogenous ... Read on »
From the RFN Archives: Fabry's disease and the kidney by Matt S. Posted Tue 01 Nov 2011 1:51pm I read a nice review of Fabry’s disease recently, and was surprised to read that its prevalence in ESRD may be as high as 1-2%. That figure is likely an underestimate, given the frequent failure to screen for the disease in patients with nephropathy and other common symptoms. Since a recombinant enzyme to replace missing the endogenous p ... Read on »
Fabry's Disease – modes of inheritance by Matt S. Posted Wed 16 Feb 2011 10:02am Just a quick piece to review the inheritance pattern of Fabry's disease , a relatively rare, but under-recognized cause of End-Stage Kidney Disease in adults. Fabry’s disease is an X-linked recessive disease, caused by a defect in the alpha-galactosidase enzyme on the X chromosome. This enzyme has an important role in intracellular traffi ... Read on »
Using Video to Communicate about Rare Diseases by Dan Dunlop Patient Expert Posted Thu 11 Apr 2013 6:33am Facing Fabry Together is an educational film, produced by Genzyme, that tells the captivating stories of four families from around the world that are living with Fabry disease. (Genzyme is a biotech company that started in Boston and has since been purchased by Sanofi. Genzyme markets Fabrazyme, a drug used to treat patients with Fabry diseas ... Read on »
Small-Molecule Modulators of Lipid Storage for Treatment of Obesity, Atherosclerosis, Metabolic Syndrome and Lipid Storage Disea by nih.gov Posted Wed 18 Apr 2012 12:00am Description of Invention: Lipid droplets are key organelles involved in lipid homeostasis. In normal physiology, these droplets are formed in response to elevated fatty acid levels, and are broken down when needed for energy production. Imbalances in lipid homeostasis trigger compensatory alterations in metabolism that can l ... Read on »
The Future of Orphan Diseases Therapeutics - Market Forecasts to 2015, Pipeline Analysis and Reimbursement- Aarkstore.com by Aarkstore Posted Thu 20 May 2010 12:44am Summary: Research, the leading business intelligence provider, has released its latest research “The Future of Orphan Diseases Therapeutics - Market Forecasts to 2015, Pipeline Analysis and Reimbursement” The report provides in-depth analysis of unmet needs, drivers and barriers that impact the global orphan diseases therapeutics market. The ... Read on »
The Future of Orphan Diseases Therapeutics - Market Forecasts to 2015, Pipeline Analysis and Reimbursement by Aarkstore Posted Sun 18 Apr 2010 11:37pm Research, the leading business intelligence provider, has released its latest research “The Future of Orphan Diseases Therapeutics - Market Forecasts to 2015, Pipeline Analysis and Reimbursement” The report provides in-depth analysis of unmet needs, drivers and barriers that impact the global orphan diseases therapeutics market. The report analyzes ... Read on »
Is Your Disease on the RARE List™ – If So, More Bad News! by Chris H. Posted Mon 06 Feb 2012 3:01pm I wonder if people truly understand what it means if their rare disease or disorder is on the RARE List™? Last week, the R.A.R.E. Project and  Global Genes Project , leading patient advocacy organizations representing the rare disease community, issued the RARE List™ , a stunning 65 page ... Read on »
Types and Signs of Arthritis by Jan Posted Fri 11 Sep 2009 4:57pm There are over 100 types of Arthritis Achilles tendinitis Achondroplasia Acromegalic arthropathy Adhesive capsulitis Adult onset Still's disease Ankylosing spondylitis Anserine bursitis Arthritis of Ulcerative colitis Avascular necrosis Behcet's syndrome Bicipital tendonitis Blount's di ... Read on »
Genetics Home Reference: small fiber neuropathy by nih.gov Posted Tue 04 Dec 2012 10:49am On this page: Description Genetic changes Inheritance Diagnosis Additional information Other names Glossary definitions Reviewed November 2012 What is small fiber neuropathy? Small fiber neuropathy is a condition characterized by severe pa ... Read on »