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Refsums Disease:     more books (15)

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 The Official Parent's Sourcebook on Refsum Disease: A Revised and Updated Directory for the Internet Age by Icon Health Publications, 2002-09-12 Alpha-Adrenoceptor Blockers in Cardiovascular Disease by Helge Refsum, 1985-06 Refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Oren, MD, PhD Traub, 2005 Infantile refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Oren, MD, PhD Traub, 2005 Refsum disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Neurological Disorders</i> by Bryan, PhD Cobb, 2005 Biochemical and dietary studies in Refsum's disease (Heredopathia atactica polyneuritiformis) by Kenneth Try, 1969 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 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 Gale Encyclopedia of Medicine: Lipidoses by Altha Roberts Edgren, 2002-01-01 Lipidoses: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Altha Edgren, 2006 Homocysteine Metabolism: From Basic Science to Clinical Medicine Peripheral Neuropathies: International Conference Proceedings (International congress series) Myocardial Ischemia and Protection

lists with details

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
   
   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

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

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}

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

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

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

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
   
   Extractions: 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. 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
   
   Extractions: 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

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
    
    Extractions: 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.

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
    
    Extractions: 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

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

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
    
    Extractions: 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
    
    Extractions: 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

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
    
    Extractions: 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';

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/

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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