21. Mediscan: Search Results Your search refsums disease produced 8 results Results 1 to 8, View largerimage. 014319 REFSUMS SYNDROME RETINITIS PIGMENTOSA. http://www.mediscan.co.uk/cfm/resultssearch.cfm?box=refsums disease&mediatype=Im

22. New Beacon, December 1995, 79(937) refsums disease is a very rare genetic disorder, of which the main symptoms People with refsums disease have an enzyme `missing , which means that they http://www.rnib.org.uk/xpedio/groups/public/documents/visugate/public_nbdec95.hc

Skip Navigation shopping donations what's new link to us sitemap ... Research Back to: Homepage About Us Publications Publications Archive Search: Whole site Publications Archive section Tips for screenreader users Jump to main content Publications Archive navigation Publications Archive contents Contact us FAQs Useful links About the archive ... Visugate Publications Archive Print Email New Beacon, December 1995, 79(937) Summary: The leading monthly magazine on issues concerning people with sight problems New Beacon December 1995, 79(937) In Depth Letters Insight In Brief ... Obituary Editor: Ann Lee Have a Dickensian Christmas! Paul Scofield plays old Martin Chuzzlewit in the popular BBC Television serial, now available on video with audio description. See Our report by Monique Raffray looks at the development of audio description in various European countries. In Depth Snakes and ladders - Part 2: Putting ladders in the right places In his first article, Richard Cox, Hampshire's Adviser on Visual Impairment, used a fictional character with failing sight to question the general manner in which sight loss is dealt with by statutory authorities. He likened the process of medical care without social support to a descent down a slippery snake, to the `last resort' of registration, before help might be offered. This month he describes some of the `ladders' that Hampshire have developed. Providing ladders early on We began by accepting the proposition that early identification The Mrs Smith in my previous article didn't give up her home because she wasn't fit or mentally alert. She did so because no one saw her simple needs for what they were: needs such as good lighting to cook safely by, a decent LVA service so she could still read her own post, and some basic mobility training so she could get to the shops without being run over. And she also needed a bit of understanding about how she felt when she was registered and discharged without the treatment she'd falsely hoped for.

23. Favorite Links Their son Hunter has Krabbes Disease another Leukodystrophy. Alexander s Disease,Krabbes Disease, Metachromatic Leukodystrophy and refsums disease. http://www.dylanfreeman.20m.com/favorite_links.html

The Dylan Samuel Freeman Story About Alexander's Disease Sign My Guest Book Lakeland Ledger Article ... OUR HERO - 11/20/1996 - 4/30/2004 My Favorite Links Visit the following links to find out more information about the United Leukodystrophy Foundation: E-mail: ulf@ceet.niu.edu www.ULF.org www.huntershope.org www.myelin.org The Myelin Project works to accelerate research on myelin repair. Myelin is damaged by multiple sclerosis, Leukodystrophies and many other demylenating disorders. www.Krabbes.net The Krabbes Family Network. Very supportive, caring people who deal with Krabbes disease. www.familyvillage.com Resources on Adrenoleukodystrophy, Alexander's Disease, Krabbes Disease, Metachromatic Leukodystrophy and Refsums Disease. Make a Wish Foundation Making kids dreams come true!!!

24. ~IN // Medical-Conditions.org // Medical Conditions Infantile Papular Acrodermatitides Infantile Papular Acrodermatitis Infantile ParalysisInfantile Refsum Disease Infantile refsums disease Infantile Sandhoff http://www.medical-conditions.org/?q=~In

25. REFSUMS DISEASE, INFANTILE // Medical-Conditions.org // Medical Conditions refsums disease, Infantile information and medical glossary at MedicalConditions.org. Medical Conditions Z. refsums disease, Infantile. A http://www.medical-conditions.org/?q=Refsums Disease, Infantile

26. Retinitis Pigmentosa - Swedish Medical Center, Seattle, Washington Retinitis pigmentosa (RP) is a group of inherited eye diseases that often leads to BassenKornzweig disease; Kearns-Sayre syndrome; refsums disease http://www.swedish.org/14519.cfm

PDF Version Search Send-to-Friend Health Library Home ... Conditions InBrief Retinitis Pigmentosa by Debra Wood, RN Definition Causes Risk Factors ... Organizations Definition Retinitis pigmentosa (RP) is a group of inherited eye diseases that often leads to severe visual problems. The retina is a layer of light-sensitive tissue that lines the back of the eye. It converts visual images that we see into nerve impulses that it sends to the brain. Some types of RP are associated with other inherited conditions. This disorder is named for the irregular clumps of black pigment that usually occur in the retina with this disease. Normal Anatomy of the Eye www.nucleusinc.com Causes Many types of RP are caused by a genetic mutation. Some cases occur sporadically. Vision loss occurs when light-sensitive cells in the retina gradually break down. There are two types of cells in the retina: Cones “ found mostly in the center of the retina. Cones are needed for central vision and to see colors. Rods “ located mostly away from the center. They respond to dim light. They provide night and peripheral vision. In most forms of retinitis pigmentosa, the rods die. Vision becomes impaired at night. The ability to see things off to the side while looking ahead also decreases. In some forms of RP, the cones are lost. In those cases, central and color vision suffers. Vision loss usually progresses over a period of many years.

27. 1300 Ziekten refsums disease (Infantile) Rhizomelic Chondropdysplasia Punctata RileyDaySyndrome Sandhoff s Disease y Schwachman-Diamond S ndrome http://boks.be/nl_site/html/1300dis.htm

1300 (bekende) Metabole ziekten (van Research Trust for Metabolic Dieases in Children) De lijst... Abetalipopprotinaemia Achondroplasia Adenosine Deaminase Deficiency Adrenal Hyperplasia Adrenal Hypoplasia Aicardi-Goutieres Syndrome Alagille Syndrome Alcaptonuria Alpers Disease Alpha One Antitrypsin Deficiency 5 Alpha Reductase Deficiency Alports Syndrome Alstroni s Disease Amyloidosis Androgen Insensitivity Arachidonic Acid, Absence of: Arginase Deficiency Arginosuccinic Aciduria (ASA) Aromatic amino acid decarboxylase deficiency Arterial Calcification of Infancy Occlusive Infantile Arteriopathy Arylsulphatase A Deficiency Aspartyl Glucosaminuria Ataxia Telangiectasia Bartters Syndrome Batten's Disease Berardinelli Lipodystrophy Syndrome Beta Ketothiolase Deficiency 2 Methylacetoacetyl CoA Thiolase Deficiency Beta-Methylcrotonylglycinuria Biliary Hypoplasia Biotin Deficiency CI Esterase Deficiency Carbamyl Phosphate Synthetase Deficiency (CPS) Carbohydrate Deficient Glycoprotein Syndrome Carnitine Deficiency Carnitine Palmitoyltransferase Deficiency Cerebrotendinous Xanthomatosis Chondrodysplasia Punctata Citrullinaemia Cobalamin C/G Deficiency Cockayne Syndrome Crigler Najjar Syndrome type I Cystinosis Cystinuria Cytochrome C Oxidase Deficiency Diabetes Insipidus Dysmyelination Endocardial Fibroelastosis Ethylmalonic Aciduria Ethylmalonic Adipic Aciduria Farbers Disease Fabry's Disease Fanconi's Syndrome Fish Odour Syndrome (Trimethylamineuria) Fructose Intolerance, hereditary

28. Rebecca S Story She is labeled with Infantile refsums disease. This very rare syndrome is typicallydeaf/blind. She is diagnosed with RP and moderate hearing loss in both http://www.geocities.com/Heartland/Meadows/5939/RebeccaWeaver.HTML

Click the color button to change background color. Rebecca's Story Rebecca, is 5 1/2 years old, she will be 6 in August. She is labeled with Infantile Refsums Disease. This very rare syndrome is typically deaf/blind. She is diagnosed with RP and moderate hearing loss in both ears. She wears hearing aids in both ears and tests at conversational level. She attends the WPSBC (Western Pennsylvania School for Blind Children) in Pittsburgh, she is enrolled in Kindergarten. They are working mildly on sign language, but her vocal abilities have greatly improved over this last year. She has about 30 + words in her list, which is a major improvement since I first joined the listserv a year ago. She has recently been diagnosed with seizures, so she is now wearing a safety helmet (bright pink). She is very mobile, runs as well as walks everywhere. She especially like the outdoors. She's happy just to be out on the porch in the rain, as long as she is out. She refuses to wear gloves, so the snow weather/play is non-existant. As soon as her hands hit the snow, she is ready to come in. She has a younger sister who she terrorizes. We have behavior problems with her, so after alot of searching (about 3 years) I have finally found EPSDT services that start this coming week. This will be very interesting, and helpful. Written in March 1998 by Jean Weaver

29. Top > Health > Conditions And Diseases > Nutrition And Metabolism Disorders > Ch http//www.alphalink.com.au/~dijon/index3.htm. • refsums disease. Two articles aboutthis disease, clinical description, inheritance, treatment and related http://websearch.cs.com/cs/browse?id=434084&source=CSBrowse

30. UNITED LEUKODYSTROPHY FOUNDATION _LEU16 Information on refsums disease$2.00. _LEU17 Information on PeroxisomalDiseases-$3.00. _LEU18 Information on Lysosomal Storage Diseases-$2.00 http://www.ulf.org/ulf/ulfres/

U NITED L EUKODYSTROPHY F OUNDATION 2304 Highland Drive * Sycamore, Illinois USA 60178 * Phone: (800) 728-5483 * FAX: (815) 895-2432 Resources available at the ULF The ULF maintains a collection of reprints, booklets, and videotapes available on a variety of topics as listed below. Videotapes are sessions from past ULF National Conferences and may be either purchased or rented by our members, or purchased by the general public. Literature is limited to one of each item. Please email us and request an order form which contains a complete listing of the literature available. Send the completed form to the above address along with your payment and your address information. Please allow 2 weeks for delivery. Payment accepted by money order, check, Master Card or Visa. Literature Bone Marrow Transplant Information Education Equipment ... Videotape Titles and Descriptions Literature Bone Marrow Transplant Information _BMT01 Bone Marrow Donor Information-$1.00 _BMT02 Patient Care/Complications-$1.00 _BMT03 Adrenoleukodystrophy-$2.00 _BMT04 Krabbes Disease-$2.00

31. Shipping Tau/Aß42, Muscle biopsies, Pressure Palsy Neuropathy. Peroxisomal Disorders,Chronic Demyelinative Neuropathy. Adrenoleukodystrophy. refsums disease Test http://www.athenadiagnostics.com/site/content/resources/shipping.asp

Shipping Guidelines for Shipping to Athena Shipping Kits Unacceptable Specimens Incomplete Requisition Forms Instructions for Shipping ... Additional Questions Shipping Kits Order Shipping Kits Athena Diagnostics provides all shipping materials and pays shipping charges for specimens sent to us. Our shipping containers include: A prepaid airbill Sample container Shipping container Profile selection guide (if applicable) Dry ice label (if applicable) A Test Requisition form A patient reimbursement brochure Unacceptable Specimens unacceptable by Athena Diagnostics under the following circumstances: The blood/muscle sample arrives hemolyzed, or thawed, if a frozen sample is required The shipping box is damaged and the sample has been spilled or destroyed The blood/muscle sample is less than the minimum required volume/amount The blood/muscle sample is unlabeled Incomplete Requisition Forms An incomplete Requisition Form will result in delay of testing and result reporting. Please enclose a completed Requisition Form with the submission of specimen(s). Instructions for Shipping Complete the Requisition Form Verify that the appropriate specimen requirements have been met (sample type, volume, collection tube type).

32. Sciatic Nerve Enlargement The list of causes of hypertrophied or swollen nerves includes hereditary suchas CMT, refsums disease, familial amyloid. There are several genetic subtypes http://www.medhelp.org/forums/neuro/messages/33746.html

Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic, consistently ranked one of the best hospitals in America. Sciatic Nerve enlargement Forum: The Neurology and Neurosurgery Forum Topic: Neurology - General Subject: Sciatic Nerve enlargement From To Post Darrenz Hello, My son, Darren (11 yo) has been suffering from left feet drop. So far, We did MRI twice and it showed the enlargement of sciatic nerve(left)but the doctors couldnt tell why it happened Some specialists thought it could be Dejerin-Sottas desease. We did gerenal blood test(not specific for the DS)and spine fluid examination which both didnt show any abnormal.We even had Darren done the Pet-CT scan and doctors still couldnt find out what exactly diseasehe has, they said it might be possible a kind of tumor or inflamation. Darren's problem begins approximately 2 years ago, and it progressive since discovered. At beginning it was slight weakness in left feet, and after some time it become more serious problem. His left feet can't stay straight and he unable to control toes. Now he has suffering of walking difficulty. But since this problem begin and until now he hasn't any feeling of pain from it. As the doctors couldnt tell what exactly disease he has and any posissble way to cure in Austalia.so he didnt get any treatment so far.

33. Blackwell Synergy - Cookie Absent inherited diseases, called peroxisome biogenesis disorders (PBD,) such asZellweger syndrome, neonatal adrenoleukodystrophy and refsums disease 7. http://www.blackwell-synergy.com/doi/abs/10.1111/j.1742-4658.2005.04690.x

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34. Refsum Disease - Information / Diagnosis / Treatment / Prevention Two articles about this disease, clinicaldescription, inheritance, treatment and related diseases and syndromes....... Refsum Disease. refsums disease http://www.healthcyclopedia.com/nutrition-and-metabolism-disorders/cholesterol-a

Home Health cyclopedia Quotable: "Confidence is contagious. So is lack of confidence." - Vince Lombardi All Topics by Category The Complete Guide to Health Care Resources on the Internet Health Conditions A-Z Gurus ... cholesterol and other fats > refsum's Refsum Disease Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Related Topics Medical Definition Health News MEDLINE Database ... Web Directory: Related Topics: Genetic Disorders Neurological Disorders/Muscle Diseases Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "disease, refsum's" Health News: Search millions of published articles for news on Refsum Disease Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. MEDLINE/PubMed Database of Research Articles: Search PubMed Abstracts for "Refsum Disease" Search PubMed Central Full Text Articles from Life Sciences Journals for "Refsum Disease" Web Directory: Refsum Disease Description: Information sheet on this disease as to what it is, the symptoms, treatment and research being done.

35. Solve These Questions Please. 1.Refsum s disease? 2.prostaglandins are liberated in the circulation by thestimulation of which gland? refsums disease Due to accumulation of phytanic acid . http://www.aippg.net/forum/viewtopic.php?t=948

36. 1st Edition 2002 refsums disease EMAIL GROUP - Contact Di Harman - e-mail addressDijon@alphalink.com.au. Would you like to be on a local e-mail group eg Stargardts,LCA, http://www.rpsa.org.za/news/1st_addition_2002.htm

RETINA ADVERT RECEIVES INTERNATIONAL RECOGNITION Grey Worldwide in South Africa developed an innovative Television Advert for Retina South Africa last year. The 30 second TV ad featured a typed script transforming into Braille. The Ad was aired on South African TV last year as part of World Retina Week. Grey Worldwide South Africa received a Bronze Clio for the ad, one of only 10 awards won by South African Advertising agencies. We congratulate the team at Grey and are proud to have them as our advertising agency. 5 BEAUTY QUEENS DAZZLE PORT ELIZABETH Congratulations to Gail Cillie and Sandra Kieck for organising this classy event. Pictured from left to right: Bernalee Daniel, Vanessa Correira, Gordon Cousins (National Chairman, Retina South Africa), Gail Cillie (Chairman Port Elizabeth), Sonia Raciti, Heather Hamilton and Penny Rey Coelen. LIBERTY RIDE FOR SIGHT 2002 This annual cycling event organised by the Gauteng branch of Retina South Africa was held on the 24th February 2002. This year around 5000 cyclists took part in the 58km and 112km events, raising R120 000 for our Gene Tracking Project. The main event was won by Ian McLeod in a time of 2:36:22. Retina South Africa would like to thank Liberty, Dischem and all the other sponsors for their support. We would also like to thank Springs Wheelers our cycling club, Alberton Amateur Radio, Red Cross, Aberdare Cables, our portfolio supervisors and over 300 volunteers for an excellent job. Douglas Ryder, captain of the South African Cycling Team commended the race as one of the best organised cycle events in the country.

37. Health Disorders And Diseases: Nutrition And Metabolism Disorders/Cholesterol An refsums disease Two articles about this disease, clinical description,inheritance, treatment and related diseases and syndromes. http://www.disorder-disease.com/Nutrition_and_Metabolism_Disorders/Cholesterol_a

HOME ADD A LINK MODIFY A LINK NEW LINKS ... LOGIN Looking for something in particular? the entire directory only this category More search options Home Nutrition and Metabolism Disorders Cholesterol and Other Fats : Refsum's LINKS: Refsum Disease The clinical and biochemical presentation of this disease, the causes and treatment are discussed. http://www.peroxisome.org/Scientist/Biochemistry/disorders/refsumtext.html (Added: Sat Sep 06 2003 Hits: Rating: 0.00 Votes: 0) Rate It Review It Refsum Disease Information sheet on this disease as to what it is, the symptoms, treatment and research being done. http://www.ninds.nih.gov/health_and_medical/disorders/refsum_doc.htm (Added: Sat Sep 06 2003 Hits: Rating: 0.00 Votes: 0) Rate It Review It Refsums Disease Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. http://www.srpf.a.se/forsk/refsum.html (Added: Sat Sep 06 2003 Hits: Rating: 0.00 Votes: 0) Rate It Review It Yahoo! Group - Refsum Disease Support Network E-mail based discussion group for people with this disorder and their families for sharing experiences, coping strategies and dietary tips. http://groups.yahoo.com/group/refsums_discussion/

38. R - Medical Conditions Refsum Disease, The clinical and biochemical presentation of this disease, refsums disease, Two articles about this disease, clinical description, http://conditions.webdirs.net/medgroup-R-2.html

Directory R : 447 page(s) Part : Rebekahs Rett Syndrome Personal story of Rebekah through 3 years of tests, diagnosis, and finally news of the gene being found. Recapture Hair A revolutionary formula developed in Helsinki. A weapon in the battle against thinning hair. Recent Developments in the Management of COPD Complete review of chronic obstructive pulmonary disease and the most recent abstracts on relieving the severity of its symptoms. Recipes My Mother Forgot Family style cooking and a caregivers guide to Alzheimers Disease. Links to AD sites, free newsletter, and an update on Isobel Rhodes. Reck MOTOmed Describes the MOTOmed line of adaptive exercise and physical therapy equipment. Recognition and Treatment of Stroke in Children The National Institute of Neurological Disorders and Stroke USA presents a comprehensive review of current knowledge, and makes suggestions for further research. Includes a table listing presumed risk factors. Recommendations for Test Performance and Interpretation...on Serologic A twotest approach for active disease and for previous infection using a sensitive enzyme immunoassay EIA or immunofluorescent assay IFA followed by a Western immunoblot, Centers for Disease Control and Prevention CDC, August 11, 1995. Recommendations on the management of thyroid cancer Key recommendations and overview of management of thyroid cancer differentiated and medullary in adults. Aimed at UK physicians. From the Royal College of Physicians, UK.

39. F - Medical Conditions Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, KrabbesDisease, Metachromatic Leukodystrophy, and refsums disease. http://conditions.webdirs.net/medgroup-F-2.html

Directory F : 371 page(s) Part : Family Village Links to chat rooms, web sites and information about Von Hippel Lindaus disease. Family Village Opitz G Syndrome information and contact links. Family Village Aarskog Syndrome Offers links for support and information concerning this disease. Family Village Brachial Plexus Erbs Palsy Resources, contacts, chatrooms, links. Family Village Epilepsy Seizure Disorders Ketogenic Diet, Chat, Learn More About It, Web Sites, International and NonEnglish Resources. Family Village Library Leukodystrophy Resources on Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsums Disease. Family Village Fanconi Anemia Features contact information for the Fanconi Anemia Research Fund. Links to personal accounts and areas where one can learn about the disease. Family.com First Aid Fractures An excerpt on first aid for fractures from the Disney Encyclopedia of Baby and Child Care. FamilyDoctor.org Angina and Heart Disease Explanation as to what angina is, how to tell if heart disease is present, the treatments and side affects, and the prognosis. FamilyDoctor.org Elimination Problems Flow Chart

40. RP FIGHTING BLINDNESS NUMBER 85 WINTER 1997 The Newsletter Of The In some very rare cases, environmental factors can cause retinal problems, aswith refsums disease which, when identified, can be controlled by diet, http://www.brps.org.uk/Text/BRPS_9712.txt

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