1. Bmj.com 312 (7043): 1388 Download to Citation Manager. Alert me when New articles cite this article. BMJ 1996;3121388 (1 June) Papers. Do you know anyone with refsums disease? Do you know anyone with refsums disease? http://bmj.bmjjournals.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

2. Omniseek: Employment: Search Results For 'Krabbe Disease' Hunter, was diagnosed with Krabbe disease (GloboidCell Leukodystrophy). To date UNITED LEUKODYSTROPHY FOUNDATION. refsums disease -$2.00 _LEU17 Information on Peroxisomal Diseases http://employment.omniseek.com/srch/Krabbe disease

News Sections Business Community Computing Directory ... Travel Search Engine Omniseek Multisearch Article Archives CareerMosaic Chronicle Career Network Excite Employment Classifieds JOBS j o b s Jobs Monster.com New Careers Don't forget to come back to this page and click the check mark to vote for a site! Health /Conditions and Diseases /Neurological Diseases /Krabbe Disease / GALC CM960669 7 TCG-TAG Ser-Term Krabbe disease 1 CM960670 63 CGT-CAT Arg-His Krabbe disease 1 CM970545 66 ATAt-ATG Ile-Met Krabbe disease 2 CM950518 95 GGC-GAC Gly-Asp Krabbe disease 3 CM960671 95 cGGC-AGC Gly-Ser Krabbe ... (http://www.uwcm.ac.uk/uwcm/mg/ns/1/119970.html) Hunter's Hope Was formed in September 1997, after their infant son, Hunter, was diagnosed with Krabbe disease (Globoid-Cell Leukodystrophy). To date they have raised over two million dollars to further research on Krabbes and other Leukodystrophies. (http://members.aol.com/hunterhope/main.html) Krabbe-Disease.com A site that shares information about Globoid Cell Leukodystrophy or Krabbe Disease. Information was obtained from several sources parents of children with Krabbe, physicians, researchers, medical texts and medical websites. (http://www.krabbe-disease.com/)

3. Omniseek: /Health /Conditions And Diseases /Neurological Diseases /Krabbe Diseas Hunter, was diagnosed with Krabbe disease (GloboidCell Leukodystrophy). To date UNITED LEUKODYSTROPHY FOUNDATION. refsums disease -$2.00 _LEU17 Information on Peroxisomal Diseases http://www.omniseek.com/srch/{26735}

News Sections Business Community Computing Directory ... Travel Search Engine Omniseek Multisearch Article Archives About AltaVista Ask Jeeves Euroseek Excite Google Goto HotBot Infoseek LookSmart Lycos Omniseek Snap Webcrawler Yahoo Don't forget to come back to this page and click the check mark to vote for a site! Health /Conditions and Diseases /Neurological Diseases /Krabbe Disease / GALC CM960669 7 TCG-TAG Ser-Term Krabbe disease 1 CM960670 63 CGT-CAT Arg-His Krabbe disease 1 CM970545 66 ATAt-ATG Ile-Met Krabbe disease 2 CM950518 95 GGC-GAC Gly-Asp Krabbe disease 3 CM960671 95 cGGC-AGC Gly-Ser Krabbe ... (http://www.uwcm.ac.uk/uwcm/mg/ns/1/119970.html) Hunter's Hope Was formed in September 1997, after their infant son, Hunter, was diagnosed with Krabbe disease (Globoid-Cell Leukodystrophy). To date they have raised over two million dollars to further research on Krabbes and other Leukodystrophies. (http://members.aol.com/hunterhope/main.html) Krabbe-Disease.com A site that shares information about Globoid Cell Leukodystrophy or Krabbe Disease. Information was obtained from several sources parents of children with Krabbe, physicians, researchers, medical texts and medical websites. (http://www.krabbe-disease.com/)

4. Refsum Disease - Information / Diagnosis / Treatment / Prevention Refsum Disease A personal story of a person experiencing with this disease has refsum's disease. . refsums disease Two articles about this disease, clinical description http://www.healthcyclopedia.com/refsums_disease.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine 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 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. Web Directory: Refsum Disease A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. Refsum Disease Information sheet on this disease as to what it is, the symptoms, treatment and research being done.

5. Favorite Links Their son Hunter has Krabbes Disease another Leukodystrophy. www Adrenoleukodystrophy, Alexander's Disease, Krabbes Disease, Metachromatic Leukodystrophy and refsums disease. Make a 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!!!

6. CELL STRUCTURE  Cells Come In Different Sizes TaySach's disease - nervous system is destroyed by excess lipid (called ganglioside G2 Abnormal peroxisomes can cause disease. Infantile refsums disease - accumulation of very long http://natsci.edgewood.edu/Zoology 101/cell_structure.htm

CELL STRUCTURE Cells come in different sizes - size varies based on function There is a limit to how large a cell can be large cells have much less surface area relative to their volume than small cells of the same shape cells need adequate surface area to obtain nutrients and dispose of waste Prokaryotic Cells are Small and Have Simple Structure Shown below is a diagram of a prokaryotic cell, give a brief description of the function of each labeled component. For more really cool cell pictures, click on www.cellsalive.com Eukaryotic cells have compartments called organelles Why organelles? specific conditions can be maintained for chemical activities of cell increase surface area Eukaryotic cells are bound by the plasma membrane - phospholipids - proteins - cholesterol Ribosomes - site of protein synthesis - two subunits composed of protein and RNA - located in cytosol and on endoplasmic reticulum Nucleus - genetic control center - contains chromatin (genetic material) - enclosed by double membrane called nuclear envelope - nuclear pores allow molecules in and out of nucleus - contains nucleolus - site of ribosome synthesis The endoplasmic reticulum, Golgi apparatus, lysosomes and vacuoles are connected through the endomembrane system

7. UNITED LEUKODYSTROPHY FOUNDATION BMT04 Krabbes Disease$2.00 _ BMT05 Metachromatic Leukodystrophy-$2.00 LEU16 Information on refsums disease-$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

8. MCDB 1041: The Cell 1. Infantile refsums disease accumulation of a specific type of lipid (fat) molecule that leads to mental movie Lorenzo's oil was about a child wit this genetic disease) http://www.colorado.edu/MCDB/MCDB1041/lecture3.html

MCDB 1041: The Cell Lecture 3 I. Eukaryotic cells A. Increased size compared to a prokaryotic cell (at least 1000x the volume) and surrounded by a membrane b. Contains chromosomes that are composed of DNA, RNA, and protein 2. tRNA (transfer RNA), rRNA (ribosomal RNA, and sRNA (small RNA) made in the nuceolus, a darkly staining region of the nucleus c. Nuclear pores are the openings used to export and import other molecules into the nucleus c. Manufacture of proteins with ribosomes and tRNAs on a system of interconnected membranes called the endoplasmic reticulum (ER). These membranes are connected to the nuclear envelope. 1. Rough ER (see Figure 2.8 in your book) has ribosomes associated with it. 2. The protein as it is manufactured is placed into the membranes of the ER. Proteins made on the ER will be exported out of the cell or found in other membranes in the cell. Proteins that remain in the cytoplasm are made on ribosomes in the cytoplasm. 3. Helps in the correct folding of a protein d. The ER changes into the Golgi body. In the Golgi body, sugars are made and linked to the proteins. Folding is finished in the Golgi

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

Home Health cyclopedia All Topics by Category The Good Health Search Engine 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 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. Web Directory: Refsum Disease A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. Refsum Disease Information sheet on this disease as to what it is, the symptoms, treatment and research being done.

10. Refsum's Disease Refsum s disease,. Print this article, (Sigvald A short conical terminalphalanx of the thumb is characteristic of Refsum s disease. Epiphyseal http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/REFSUMS DISEAS

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Refsum's disease, (Sigvald Bernhard Refsum, 20th century, Norwegian physician), a genetically transmitted disorder of phytanic acid metabolism characterized by elevated protein concentrations in the cerebrospinal fluid, cerebellar ataxia, peripheral polyneuropathy and retinitis pigmentosa. On radiographs, irregularity of vertebral bodies and shortening of the metatarsals, metacarpals and phalanges are observed. A short conical terminal phalanx of the thumb is characteristic of Refsum's disease. Epiphyseal abnormalities reminiscent of ischaemic necrosis may also be seen. DR The Encyclopaedia of Medical Imaging Volume III:1 Contacts GE Healthcare Making Waves

11. Infantile Refsum's Disease Other characters, Infantile refsum s disease,. Print this article, Seerefsums disease. HC. The Encyclopaedia of Medical Imaging Volume VII. http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/INFANTILE REFSUM

Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Infantile refsum's disease, hypotonia, transient jaundice, diarrhoea, hepatomegaly, seizures and psychomotor and growth retardation. Radiologically, there is osteopenia with increased signal on T2-weighted images in the dentate nuclei. See Refsums disease HC The Encyclopaedia of Medical Imaging Volume VII Contacts GE Healthcare Making Waves

12. Disease Directory : Refsums Disease Two articles about this disease, clinicaldescription, inheritance, treatment and related diseases and syndromes....... Title refsums disease http://www.diseasedirectory.net/detailed/7226.aspx

Wednesday, June 02, 2004 Nutrition and Metabolism Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis Fabry's ... Refsum's : Refsums Disease Directory Listing Title: Refsums Disease Description: Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. Date Added: 2/4/2004 1:24:23 PM URL: http://www.srpf.a.se/forsk/refsum.html

13. Disease Directory : Nutrition And Metabolism Disorders : Cholesterol And Other F refsums disease Two articles about this disease, clinical description,inheritance, treatment and related diseases and syndromes. http://www.diseasedirectory.net/Nutrition_and_Metabolism_Disorders/Cholesterol_a

Wednesday, June 02, 2004 Nutrition and Metabolism Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis Fabry's ... Cholesterol and Other Fats : Refsum's Gaucher Disease - An in depth look at this disease and its causes, the different types, symptoms and treatment. Refsum Disease - The clinical and biochemical presentation of this disease, the causes and treatment are discussed. Refsum Disease - Information sheet on this disease as to what it is, the symptoms, treatment and research being done. Refsum's Diet - Very in depth discussion about the foods and diet of some one whom has refsum's disease. Refsums Disease - Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes.

14. :: Ez2Find :: Refsum's URL http//www.alphalink.com.au/~dijon/index1.htm; refsums disease Site Info- Translate - Open New Window Two articles about this disease, clinical http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Refsum's Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Refsum's ez2Find Home Directory Health Conditions and Diseases ... Cholesterol and Other Fats : Refsum's Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases Health: Conditions and Diseases: Rare Disorders Web Sites Refsum Disease [Site Info] [Translate] [Open New Window] Information sheet on this disease as to what it is, the symptoms, treatment and research being done. URL: http://www.ninds.nih.gov/health_and_medical/disorders/refsum_doc.htm Refsum Disease [Site Info] [Translate] [Open New Window] The clinical and biochemical presentation of this disease, the causes and treatment are discussed.

15. PharmGKB: Refsum Disease Refsum Thiebaut Syndrome; Refsum s Disease; Refsum s Syndrome; RefsumThiebaut Syndrome;Refsum-Thiebaut Syndromes; refsums disease; Refsums Syndrome; Syndrome http://www.pharmgkb.org/do/serve?objId=PA445511&objCls=Disease

16. Nutrition And Metabolism Disorders: Cholesterol And Other Fats: Refsum's Refsum Disease. A personal story of a person experiencing with this disease.Shared details of the diet that needs to be followed. refsums disease. http://www.puredirectory.com/Health/Conditions-and-Diseases/Nutrition-and-Metabo

Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Refsum's Home Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Refsum's google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000'; Standard Listings Refsum Disease A personal story of a person experiencing with this disease. Shared details of the diet that needs to be followed. Refsum Disease The clinical and biochemical presentation of this disease, the causes and treatment are discussed. Refsum Disease Information sheet on this disease as to what it is, the symptoms, treatment and research being done. Refsum's Diet Very in depth discussion about the foods and diet of some one whom has refsum's disease. Refsums Disease Two articles about this disease, clinical description, inheritance, treatment and related diseases and syndromes. Help build the largest human-edited directory on the web.

17. Nutrition And Metabolism Disorders - 267 Of The Best Sites Selected By Humans in Charlottesville Suite 101 -The American Porphyria Foundation Refsums -RefsumDisease -Refsum Disease -Refsum Disease -refsums disease -Refsums Diet http://www.cbel.com/nutrition_and_metabolism_disorders/

Pages A-G 2 Columns Pages H-O Order by Alphabet Ordered by Theme Order by Popularity 3 Columns Pages P-Z 4 Columns Nutrition and Metabolism Disorders CBEL Health ( 267 links, last update: 12 April 2004 ) * = new links [Find on this page] A Pinch of Controversy Shakes Up Dietary Salt Action Guide for Healthy Eating Binge Eating Disorder ... Update on Nutraceuticals: dot Pharmacy Amyloidosis Amyloid Treatment and Research Center Amyloidosis Amyloidosis Amyloidosis ... Cerebrotendinous Xanthomatosis: CTX Fabrys Cardiac Transplantation for Fabrys Disease EMedicine: Fabry Disease Fabrazyme - A Treatment for Fabry Disease Fabry Community ... Fabrys Disease Gauchers Children with Gauchers Disease Comprehensive Gaucher Treatment Center European Gaucher Alliance Gaucher Disease ... What is Glycogen Storage Disease? Hyperlipidemia Familial Combined Hyperlipidemia - Overview Hyperlipidemia Hyperlipidemia Hyperlipidemia Hub ... Tumescent Liposuction Malnutrition Definition of Malnutrition Demographic and Health Surveys Malnutrition Malnutrition ... Starvation Niemann-Pick Ara Parseghian Medical Research Foundation International Center for Types A and B Niema...

18. Nutrition And Metabolism Disorders - 267 Of The Best Sites Selected By Humans Update Information Iron Deficiency and Toxicity -Iodine -Copper -Calcium Metabolism-Biotin Deficiency and Dependency Refsums -refsums disease -Refsums Diet http://www.cbel.com/nutrition_and_metabolism_disorders/?order=alpha

19. Penn State Faculty Research Expertise Database (FRED) Hyperpipecolic Acidemias, Infantile refsums disease. refsums disease, Infantile,Single Peroxisomal Dysfunction. Single Peroxisomal Dysfunctions, Faculty Experts, http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D018901

20. Penn State Faculty Research Expertise Database (FRED) Faculty Research Expertise Database. Refsum Disease. Refsum Thiebaut Syndrome,RefsumThiebaut Syndromes. refsums disease, Refsums Syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D012035

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