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         Refsums Disease:     more books (15)
  1. The Official Parent's Sourcebook on Infantile Refsum Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-11-18
  2. The Official Parent's Sourcebook on Refsum Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09-12
  3. Alpha-Adrenoceptor Blockers in Cardiovascular Disease by Helge Refsum, 1985-06
  4. Refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Oren, MD, PhD Traub, 2005
  5. Infantile refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Oren, MD, PhD Traub, 2005
  6. Refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Bryan, PhD Cobb, 2005
  7. Biochemical and dietary studies in Refsum's disease (Heredopathia atactica polyneuritiformis) by Kenneth Try, 1969
  8. Heredopathia Atactica Polyneuritiformis: A Familial Syndrome not hitherto described. A Contribution to the Clinical Study of the Hereditary Diseases of the Nervous System by Sigvald Refsum, 1946-01-01
  9. COLLABORATIVE STUDY OF EPIDEMIOLOGICAL FACTORS IN CEREBROVASCULAR DISEASE : CODING GUIDE by Ludo (van), with A.B. Baker, G. Mottura, C. Poser, S. Refsum and E. Rutishauser Bogaert, 1959
  10. Gale Encyclopedia of Medicine: Lipidoses by Altha Roberts Edgren, 2002-01-01
  11. Lipidoses: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Altha Edgren, 2006
  12. Homocysteine Metabolism: From Basic Science to Clinical Medicine
  13. Peripheral Neuropathies: International Conference Proceedings (International congress series)
  14. Myocardial Ischemia and Protection

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
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Tapetoretinala degenerationer
Definitioner
Epidemiologi

Etiologi, patogenes och patofysiologi

Symtom och klinisk bild
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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

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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

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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/

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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.

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