61. 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

Socialstyrelsen 106 30 Stockholm e-post Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper Tapetoretinala degenerationer Definitioner Epidemiologi Etiologi, patogenes och patofysiologi Symtom och klinisk bild ... Dokumentinformation Dokumentdatum: 2001-10-29 Artikelnummer: 2001-123-44 Hela dokumentet i pdf format (61 kB) Mer information finns i Patientinformation -Tapetoretinala degenerationer Kliniska riktlinjer -Tapetoretinala degenerationer Socialstyrelsen MARS State of the Art Definitioner Epidemiologi Etiologi, patogenes och patofysiologi Symtom och klinisk bild Utredning och diagnostik Elektrofysiologi Genetik (K Petrukhin et al., 1998). Behandling Syncentralen Genterapi Referenser 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.

62. Pheresis, 71 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

63. 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

64. 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

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 The clinical and biochemical presentation of this disease the causes and treatment are discussed.

65. Bmj.com 312 (7043): 1388 Similar pages Manuela Martinez Foundation for Children with Metabolic diseasesInfantile Refsum’s disease A misnamed peroxisomal disorder. Refsum’s diseaseis not a generalized peroxisomal disorder but an isolated enzyme defect. http://bmj.com/cgi/content/full/312/7043/1388

Home Help Search/Archive Feedback ... Respond to this article Download to Citation Manager Alert me when: New articles cite this article BMJ Papers Do you know anyone with Refsums disease? 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

66. ‘æ17‰ñULF‘å‰ïƒŒƒ|[ƒg The summary for this Japanese page contains characters that cannot be correctly displayed in this language/character set. http://www.jura.jp/leuko1/disease/leuko/ulf/17th/ulf_report0.htm

Home Up V’ ƒKƒCƒhEŒŸõ ... ‘å‰ï‘æ3“ú(‚»‚Ì‘¼‚̘b‘è) @u‚Æ‚à‚©‚­MLD‚Ì‚±‚Æ‚ð’m‚肽‚©‚Á‚½‚ç ULF i¦‚µ‚©‚µŽÀÛ‚ɂ͉q“¡æ¶‚ÍŒ¤‹†ŽÒ‚̉‚¾‚¯‚Å‹A‘‚³‚ꂽ‚Ì‚ÅŒ»’n‚Å‚Í‚¨‰ï‚¢‚Å‚«‚È‚©‚Á‚½j ƒZƒbƒVƒ‡ƒ“‚̉‰–Ú Ž©ŒÈÐ‰î(Making Connections on the Resource Road) ‰îŒìŽÒŽ©g‚Ö‚Ì‹C”z‚è(Caring for the Caregiver) f’fƒeƒXƒg‚̈Ӗ¡(Understanding Diagnostic Tests) Šë‹@“I‹Ç–Ê‚É‚¨‚¢‚ĐM‹Â‚ÆŒü‚©‚¢‡‚¤(Looking to Faith in a Crisis) ALD‚̐¶‰»ŠwF‘flŒü‚¯ŠwKƒvƒ‰ƒ“(Biochemistry for ALD: A Lesson Plan for the Lay Person) ‚¢‚ë‚¢‚ë‚È—–@‚Ì•]‰¿FƒeƒXƒg‚͉½‚ðˆÓ–¡‚·‚é‚©(Evaluation of Therapies:What do the Tests Mean?) ‰Æ’ë“à‚Ì—ˆç‚ÉŠÖ‚·‚éƒAƒhƒoƒCƒX(Cornucopia of Concerns in Home Care) ‘rŽ¸‚©‚ç—§‚¿’¼‚é(Suviving a Loss) •¨——–@iPTj‚Á‚ĉ½H(What About Physical Therapy?) ‰îŒìŠÇ—‚É‚¨‚¯‚鏉Šú‚̉(Early Interventions in Care Management) –ò•¨ŠÇ—‚̃p[ƒgƒi[(Partners in Drug Mnagement) áŠV‚ÆŽvtŠú(Dealing with Disabilities and the Teen Years) Œ£‘Ì‚Ì‚½‚ß‚ÌŒv‰æ(Planning for an Autopsy) ‘ŸŠíˆÚA—–@(Transplant Therapy) AMN ‚̍ŐVî•ñ‚Ɖ~‘ì‰ï‹c(AMN Up date and Round Table) ALD‚Ì•ÛˆöŽÒ‚Ì•ø‚¦‚é–â‘è(Issues of the ALD Carrier) ‰ÈŠw“IÅVî•ñ(Scientific Updates) ƒAƒCƒJƒ‹ƒfƒB-ƒS[ƒVƒFÇŒóŒQ (Aicardi-Goutieres) ƒAƒŒƒNƒTƒ“ƒ_[•a (Alexanders) •›t”’Ž¿ƒWƒXƒgƒƒtƒB[(‚`‚k‚c) CADASIL ƒJƒiƒoƒ“•a (Canavans) CTX ƒNƒ‰ƒbƒx•a (Krabbes) ˆÙõ«”’Ž¿ƒWƒXƒgƒƒtƒB[(MLD) ƒIƒoƒŠƒI”’Ž¿ƒWƒXƒgƒƒtƒB[(Ovarioleukodystrophy) V¶Ž™ALD(Neonatal ALD) ƒyƒŠƒcƒFƒEƒXEƒƒ‹ƒcƒoƒbƒwƒ‹•a (Pelizaeus-Merzbacher) ƒŒƒtƒTƒ€ÇŒóŒQ (Refsums) ”]”’Ž¿‚Ì‘rŽ¸(Vanishing White Matter) ƒcƒFƒ‹ƒEƒFƒK[ÇŒóŒQ (Zellweger)

67. 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/

Home Help Search/Archive Feedback ... Table of Contents To receive our table of contents (and more) by e-mail each week, subscribe to Customised @lerts 1 June 1996 (Volume 312, Issue 7043) Other Issues: Editor's choice This week in the BMJ Editorials News ... Corrections Find articles in this issue containing these words: [Search ALL Issues] Editor's choice Editor's choice [Full text] This week in the BMJ This week in the BMJ [Full text] Editorials From black bag to black box: will computers improve the NHS? Liam J Donaldson BMJ 1996; 312: 1371-1372. [Full text] From black bag to black box: will computers improve the NHS? Liam J Donaldson BMJ 1996; 312: 1371-1372. [Full text] Going home H J N Bethell BMJ 1996; 312: 1372-1973. [Full text] Mortality among second generation Irish in England and Wales John Haskey BMJ 1996; 312: 1373-1374. [Full text] Does Britain need an academy of medicine? Richard Smith BMJ 1996; 312: 1374-1375. [Full text] Laparoscopic cholecystectomy: the other side of the coin Onno T Terpstra BMJ 1996; 312: 1375-1376.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 4     61-67 of 67    Back | 1  | 2  | 3  | 4