Geometry.Net - Health_Conditions: Refsums Disease

State Of The Art: Tapetoretinala Degenerationer
för att protein med okänd funktion (The International Batten disease Consortium,1995 refsums sjukdom kan behandlas med fytansyrefri kost, men den blir rätt
http://www.sos.se/mars/sta/2001-123-44/2001-123-44.htm

Extractions: Kliniska riktlinjer -Tapetoretinala degenerationer Socialstyrelsen MARS State of the Art Symtom och klinisk bild Elektrofysiologi Genetik (K Petrukhin et al., 1998). Behandling Genterapi Ali R. R., Sarra G. M., Stephens C., Alwis M., Bainbridge J. W. B., Munro P. M., Fauser S., Reichel M. B., Kinnon C., Hunt D. M., Bhattacharya S. S., Thrasher A. J., (2000): Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy Nat Genet. Jul;25(3):306-10. Allikmets R., Singh N., Sun H., Shroyer N.F., Hatchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M. and Lupski J.R., (1997a): A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 15: 236-246. Allikmets R., Shroyer N.F., Singh N., Seddon J.M., Lewis R.A., Bernstein P.S., Peiffer A., Zabriskie N.A., Li Y., Hutchinson A., Dean M., Lupski J.R. and Leppert M. (1997b): Mutations of the Stargardt disease gene (ANCR) in age-related macular degeneration. Science 277: 1805-1807.
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and to add coverage for Posttransfusion purpura, refsums syndrome, and ABO coveragefor plasmapheresis for cold agglutinin disease, individual consideration
http://bcbsma.com/common/en_US/hresource/071.jsp
MetaEUREKA Metasearch
http//www.alphalink.com.au/~dijon/index1.htm Site info - Alexa info 4. Refsumsdisease Two articles about this disease, clinical description, inheritance
http://www.metaeureka.com/cgi-bin/odp2.pl?dir=Health/Conditions_and_Diseases/Nut
Health/Conditions_and_Diseases/Nutrition_and_Metabolism_Disorders/Cholesterol_an
URL http//www.ninds.nih.gov/health_and_medical/disorders/refsum_doc.htm Refsumsdisease Two articles about this disease clinical description inheritance
http://www.health-information-resource.com/Health/Conditions_and_Diseases/Nutrit

Extractions: Search: Welcome to the health-information-resource.com search portal. Health-information-resource.com is the premiere health and wellness search portal dedicated to providing comprehensive and up-to-date health information. Whether you are a healthcare professional or a healthcare consumer, you are likely to find health, wellness and medical-related information here that is informative and practical. Health-information-resource.com strives to provide the most thorough and reliable health information possible to ensure that every individual and family can better manage their health. Feel free to browse the health-focused directory or conduct a search for your specific wellness-related request. As a healthcare consumer today, you are faced with many important decisions regarding your physical condition. Choosing between hospitals, health care providers, doctors, prescriptions, vitamins, and a variety of other wellness-related choices can be extremely complicated. Finding a single resource that can provide you with all the answers to your health questions may seem like an unbearable task. However, health-information-resource.com can do just that. Our database is updated on a continuous basis with innovative and pertinent content, serving as your guide to reliable health information. Health Refsum's Disease Refsum Disease
Bmj.com 312 (7043): 1388
Similar pages Manuela Martinez Foundation for Children with Metabolic diseasesInfantile Refsums disease A misnamed peroxisomal disorder. Refsums diseaseis not a generalized peroxisomal disorder but an isolated enzyme defect.
http://bmj.com/cgi/content/full/312/7043/1388

Extractions: BMJ Refsums disease is a recessive genetic disorder in which the patient is unable to break down phytanic acid in the body. The main manifestations are retinitis pigmentosa and peripheral neuropathy, although other problems can occur such as anosmia, ichthyosis, deafness, ataxia, cardiac arrhythmias, and, less commonly, congenital abnormalities. The disease is rare so diagnosis may be difficult. I was eventually diagnosed as having the disease in 1994 when I was 27, although I had been ill since I was 14 and had been diagnosed as having first rheumatoid arthritis and then a psychiatric disorder. There may be other people with Refsums disease who have had difficulties being diagnosed and getting the appropriate help. I am planning to produce an information booklet and to set up a network of sufferers from the disease. If you know anyone who may be interested please contact me in writing at the following address: Ms Sandra Ruckley, RNIB Redhill College, Philanthropic
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http://www.jura.jp/leuko1/disease/leuko/ulf/17th/ulf_report0.htm

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BMJ -- Table Of Contents (312 [7043])
13841388. Abstract Full text. Do you know anyone with Refsumsdisease? BMJ 1996; 312 1388. Full text. Patterns of mortality
http://bmj.com/content/vol312/issue7043/

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