21. NEJM -- Increased Concentrations Of Cholestanol And Apolipoprotein B In The Cere Journal of Medicine Increased concentrations of cholestanol and apolipoproteinB in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. http://content.nejm.org/cgi/content/abstract/316/20/1233

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 316:1233-1238 May 14, 1987 Number 20 Next Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis. Effect of chenodeoxycholic acid G Salen, V Berginer, V Shore, I Horak, E Horak, GS Tint, and S Shefer Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract This article has been cited by other articles: Moghadasian, M. H., Salen, G., Frohlich, J. J., Scudamore, C. H. (2002). Cerebrotendinous Xanthomatosis: A Rare Disease With Diverse Manifestations. Arch Neurol [Abstract] [Full Text] Radiology [Abstract] [Full Text] Brain [Abstract] [Full Text] Dehouck, B., Fenart, L., Dehouck, M.-P., Pierce, A., Torpier, G., Cecchelli, R. (1997). A New Function for the LDL Receptor: Transcytosis of LDL across the Blood-Brain Barrier. J. Cell Biol. [Abstract] [Full Text] HOME SEARCH ... HELP Comments and questions? Please contact us The New England Journal of Medicine is owned, published, and

22. Leukodystrophy,Refsum's Disease,Cerebrotendinous Xanthomatosis,Metachromatic Leu Leukodystrophy,Refsum s Disease,cerebrotendinous xanthomatosis,MetachromaticLeukodystrophy,Globoid Leukodystrophy,Krabbe s Disease Included,Krabbe s http://www.icomm.ca/geneinfo/leuk.htm

Leukodystrophy,Refsum's Disease,Cerebrotendinous Xanthomatosis,Metachromatic Leukodystrophy,Globoid Leukodystrophy,Krabbe's Disease Included,Krabbe's Leukodystrophy,Adrenoleukodystrophy,Sudanophilic Leukodystrophy Included,Schilder's Disease,Pelizaeus-Merzbacher Brain Sclerosis,Alexanders Disease,Canavan's Disease Included,Canavan's Leukodystrophy For Information on Workshops and Seminars for Special Needs Children click here The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Leukodystrophy Disorder Subdivisions Canavan's Leukodystrophy (Canavan's Disease, Included) Krabbe's Leukodystrophy (Krabbe's Disease, Included) Metachromic Leukodystrophy Refsum's Disease Adrenoleukodystrophy Cerebrotendinous Xanthomatosis Sudanophilic Leukodystrophy, Included Globoid Leukodystrophy Schilder's Disease Pelizaeus-Merzbacher Brain Sclerosis Alexanders Disease (as defined by the National Organization for Rare Disorders Leukodystrophy is the name given to a group of very rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each of the leukodystrophies will affect one of the chemicals that make up the myelin sheath or white matter of the brain, causing the various types of leukodystrophy.

23. Cerebrotendineuze Xanthomatosis ( Cerebrotendinous Xanthomatosis) Cerebrotendineuze xanthomatosis. cerebrotendinous xanthomatosis ( CTX ).Ned Tijdschr Klin Chem 1999; 24 166170. Cerebrotendineuze xanthomatosis. http://www.homepages.hetnet.nl/~b1beukema/ctx.html

Cerebrotendineuze xanthomatosis Cerebrotendinous xanthomatosis ( CTX ) Ned Tijdschr Klin Chem 1999; 24: 166-170 Cerebrotendineuze xanthomatosis A. VERRIPS 1 , R.A. WEVERS 2, L.P.W.J. van den HEUVEL 2, B.G.M. van ENGELEN 3, A. KEYSER3 en F.J.M. GABREELS 1 In dit artikel wordt een overzicht gegeven van cerebrotendineuze xanthomatosis (CTX). Tot nu toe zijn er ongeveer 200 patiënten beschreven. In Nederland is de diagnose bij 41 patiënten gesteld. Deze ziekte is in Nederland in de jaren tachtig bestudeerd door de Groningse groep, de resultaten van deze studie zijn beschreven in het proefschrift van Koopman (1). Door onbekendheid met deze ziekte wordt de diagnose CTX nog te weinig gesteld. Naast een kort historisch overzicht worden de klinische verschijnselen van deze ziekte, de pathofysiologie, diagnostiek, aanvullend onderzoek, genetica en therapie besproken. De eerste beschrijving door van Bogaert van cerebrotendineuze xanthomatosis dateert van 1937 (2). Menkes meldde in 1968 dat het centrale zenuwstelsel een verhoogd gehalte aan cholestanol bevat (3). Salen ontdekte in 1971 een abnormale galsamenstelling, dat wil zeggen zeer lage concentraties chenodeoxycholzuur (CDCZ) (4). Deze bevinding leidde tot de ontdekking van het defect in de galzuursynthese (5) en de start van de therapie met CDCZ welke een remmend effect bleek te hebben op de synthese van cholesterol en cholestanol bij CTX patiënten (6).

24. Cerebrotendinous Xanthomatosis Directory, Home Health Conditions and Diseases Nutrition and Metabolism DisordersCholesterol and Other Fats cerebrotendinous xanthomatosis (4) See Also http://www.thenewhealthfind.com/Health/ConditionsandDiseases/NutritionandMetabol

Directory Home Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Cerebrotendinous Xanthomatosis (4) See Also: Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue Cerebrotendinous Xanthomatosis: CTX - Symptoms presented with this disease, the diagnosis and the treatment. A Case of Cerebrotendinous Xanthomatosis - A case study 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. Cerebrotendinous Xanthomatosis - Case study of a 15 year old male student. Cerebrotendinous Xanthomatosis - WorldMedicus - A definition and alternate name used for this disease. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links nutrition pyramid low-carb food prednisone side effects acupuncture ... alzheimers disease The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

25. Nutrition And Metabolism Disorders: Cholesterol And Other Fats: Cerebrotendinous Nutrition and Metabolism Disorders Cholesterol and Other Fats CerebrotendinousXanthomatosis. A Case of cerebrotendinous xanthomatosis. http://www.puredirectory.com/Health/Conditions-and-Diseases/Nutrition-and-Metabo

Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Cerebrotendinous Xanthomatosis Home Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Cerebrotendinous Xanthomatosis 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 A Case of Cerebrotendinous Xanthomatosis A case study 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into ele... Cerebrotendinous Xanthomatosis: CTX Symptoms presented with this disease, the diagnosis and the treatment. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor PureDirectory.com uses a modified version of the Open Directory.

26. Cerebrotendinous Xanthomatosis With Oromandibular Dyskinesia Bordia S, Saifee AA cerebrotendinous xanthomatosis with oromandibular dyskinesia Bordia S, SaifeeAA Head of Department of Neurology, RNT Medical College, Udaipur,. http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2003;volume=51;iss

27. Cerebrotendinous Xanthomatosis: Neuroimaging Findings In Two Siblings From An In cerebrotendinous xanthomatosis Neuroimaging findings in two siblings from an Indianfamily Gaikwad SB, Garg A, Mishra NK, Gupta V, Srivastava A, Sarkar C http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2003;volume=51;iss

28. :: Ez2Find :: Cerebrotendinous Xanthomatosis Guide cerebrotendinous xanthomatosis, Global Metasearch Any Language Guides,cerebrotendinous xanthomatosis. ez2Find Home Directory Health http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Cerebrotendinous Xanthomatosis 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 Cerebrotendinous Xanthomatosis ez2Find Home Directory Health Conditions and Diseases ... Cholesterol and Other Fats : Cerebrotendinous Xanthomatosis Related Categories Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue Web Sites Cerebrotendinous Xanthomatosis: CTX [Site Info] [Translate] [Open New Window] Symptoms presented with this disease, the diagnosis and the treatment. URL: http://www.ulf.org/ulf/intro/#Inf6 Last update: 19:12 PT, Tuesday, February 10, 2004 Help build the largest human-edited directory on the web.

29. Metabolic Ataxias Dietary Phytanic Acid Restriction. cerebrotendinous xanthomatosis. l Cytochrome450, subfamily XXVII (Sterol 27hydrolase); Chromosome 2q33-qter; Recessive http://www.neuro.wustl.edu/neuromuscular/ataxia/metatax.html

Front Search Index Links ... Patient Info METABOLIC ATAXIAS Abetalipoproteinemia Biotinidase Deficiency Carnitine acetyltransferase Cerebrotendinous Xanthomatosis ... Wilson's Disease General features Usually Autosomal Recessive Multisystem Involvement Dietary treatments often effective Hartnup l Chromosome 11q13 Biochemistry Clinical Features Rash: Photosensitive Ataxia: Intermittent Emotional Instability Treatment Nicotinamide: 25 mg/day Maple Syrup Urine Disease (Intermittent Form) l Branched chain keto acid dehydrogenase E1, alpha polypeptide ; Chromosome 19q13.2 Protein: Branched-chain alpha-keto dehydrogenase complex Mitochondrial Catalyzes overall conversion of alpha-keto acids to acyl-CoA and CO Clinical Features Intermittent events: Ataxia, Drowsiness, Seizures Onset during 2nd year Attacks after infection, surgery, high protein Patients without therapy Mental retardation Extrapyramidal: Dystonia; Athetosis; Dysarthria Tetraplegia Ophthalmoplegia Subclinical neuropathy: Mildly slow sural SNAPs Acute axonal neuropathy: Adult; ? Specific mutation Onset: Over days Course: Slow moderate improvement Nerve biopsy: Axonal loss; Endoneurial edema

30. Demyelinating Neuropathies Pick; Adrenoleukodystrophy; cerebrotendinous xanthomatosis. ToxinsAmiodarone; Chloroquine; Perhexiline. Infections Leprosy; CMV. Thickened http://www.neuro.wustl.edu/neuromuscular/nother/myelin.html

Front Search Index Links ... Patient Info NEUROPATHIES WITH ABNORMAL MYELINATION Clinical types Immune Toxins Drugs Hereditary ... Myelin Proteins J Kwon Immune Acute Chronic Chronic Immune Demyelinating Polyneuropathy (CIDP) Multifocal CIDP Multifocal Motor Neuropathy (MMN) Anti-MAG Syndrome GALOP Syndrome Anti-Sulfatide Antibody Syndrome (with serum M-protein Anti-GM2 antibody syndrome POEMS Syndrome P olyneuropathy O rganomegaly E ndocrinopathy or Edema M -protein S kin changes Perineuritis IgM anti-GD1b antibody syndrome : Occasional Toxins Diphtheria Buckthorn Hexachlorophene Sodium Cyanate Tellurium Drugs Predominantly demyelinating Chloroquine FK506 (Tacrolimus) Perhexiline Procainamide ... Farber's disease (Lipogranulomatosis) Dominant: IA IB III HNPP ... Thermosensitive Recessive: III (Dejerine-Sottas) 4D (LOM) HMSN-R CNS X-linked: IX Krabbe Metachromatic Leukodystrophy Niemann-Pick ... Pelizaeus-Merzbacher (PLP) Refsum Prion protein (PrP27-30): Glu200Lys mutation Creutzfeld-Jakob disease Mouse model: Prion over expression Salla disease Tenascin-XA Uneven packing of peripheral myelin sheaths Ehlers-Danlos phenotype Metabolic (unusual) Diabetes (? due to concurrent

31. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Nutrition_and_Meta News about cerebrotendinous xanthomatosis More news about CerebrotendinousXanthomatosis . Books about cerebrotendinous xanthomatosis http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Nutrition_a

Match: sort by: relevance date Free Services Subscribe by email RSS newsfeeds PDA-friendly format loc="/images/" A A A Find Jobs In: Healthcare Engineering Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail All Jobs by Job Type All Jobs by Industry Relocating? Visit: Moving Resources Moving Companies Mortgage Information Mortgage Calculator Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Cholesterol and Other Fats Cerebrotendinous Xanthomatosis (2 links) See Also: Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue News about Cerebrotendinous Xanthomatosis [ More news about Cerebrotendinous Xanthomatosis Books about Cerebrotendinous Xanthomatosis [ More books about Cerebrotendinous Xanthomatosis Links about Cerebrotendinous Xanthomatosis Cerebrotendinous Xanthomatosis: CTX - Symptoms presented with this disease, the diagnosis and the treatment. A Case of Cerebrotendinous Xanthomatosis - A case study 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. Our Picks: French Soap - Fragrant and beautiful soaps.

32. Conditions And Diseases: Nutrition And Metabolism Disorders: Cholesterol And Oth Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol andOther Fats cerebrotendinous xanthomatosis. cerebrotendinous xanthomatosis. http://www.health-home.net/Conditions_and_Diseases/Nutrition_and_Metabolism_Diso

Health and Home Cerebrotendinous Xanthomatosis HOME LOGIN ADD A LINK MODIFY A LINK ... PARTNER Looking for something in particular? the entire directory only this category Home Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats : Cerebrotendinous Xanthomatosis LINKS: A Case of Cerebrotendinous Xanthomatosis A case study 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. http://www.aegis.com/pubs/aidsline/1992/feb/M9220699.html Cerebrotendinous Xanthomatosis: CTX Symptoms presented with this disease, the diagnosis and the treatment. http://www.ulf.org/ulf/intro/#Inf6 Cerebrotendinous Xanthomatosis Last Update: Mon May 10 2004

33. Conditions And Diseases - Cerebrotendinous Xanthomatosis Top Links cerebrotendinous xanthomatosis Web Site Links. cerebrotendinous xanthomatosisCTX Symptoms presented with this disease, the diagnosis and the treatment. http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Nutrition_an

Sub Categories Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Cerebrotendinous Xanthomatosis Web Site Links Cerebrotendinous Xanthomatosis: CTX Symptoms presented with this disease, the diagnosis and the treatment. A Case of Cerebrotendinous Xanthomatosis A case study 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. Cerebrotendinous Xanthomatosis Case study of a 15 year old male student. Cerebrotendinous Xanthomatosis - WorldMedicus A definition and alternate name used for this disease. Cerebrotendinous Xanthomatosis A description of this rare disease, its symptoms, diagnosis and treatment. Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research. AHRQ: Clinical Information Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse. The UK Health Technology Assessment Programme Site contains details of program's many projects and publications; an NHS national research and development initiative.

34. Australian Leukodystrophy Support Group Inc Back to Main List cerebrotendinous xanthomatosis. Xanthomas is a termdescribing the presence of yellowish fatty tumours on the tendons http://home.vicnet.net.au/~leuko/ctx.html

35. Netscape Search: Top > Health > Conditions And Diseases > Nutrition And Metaboli Sites in cerebrotendinous xanthomatosis About these results. •.A Case of cerebrotendinous xanthomatosis. A case study 26year-old http://search.netscape.com/ns/browse?id=433674&source=NSCPBrowse

36. Project: Cerebrotendinous Xanthomatosis (CTX) (NIWI) from Project Cerebrotendinou . entire NIWI site (en), Help. Projectcerebrotendinous xanthomatosis (CTX). switch to nl. mutation. http://www.niwi.knaw.nl/en/oi/nod/onderzoek/OND1263793/toon

Login NIWI (en) Research Information NOD - Dutch Research Database ... Powered by from "Project: Cerebrotendinou..." entire NIWI site (en) Project: Cerebrotendinous xanthomatosis (CTX) Titel Cerebrotendineuze xanthomatosis (CTX) Abstract CTX is an inborn error in the bile acid biosynthesis. In tendons but also in the nervous system cholestanol storage can be observed. Patients develop a slowly progressive neurological disease. We investigate the patient group with this disease in The Netherlands. Period Status completed Dissertation Yes Related organisations Secretariat: Department of Neurology (KUN) Related persons Project leader: Prof.dr. F.J.M. Gabreëls Project leader: Dr. A.J.M. Keyser Researcher: Prof.dr. J.R.M. Cruysberg Researcher: Drs. A.S. Verrips Supervisor: Prof.dr. F.J.M. Gabreëls Supervisor: Dr. A.J.M. Keyser Supervisor: Prof.dr. R.A. Wevers Classification : public health and health care : biochemistry : neurology, otorhinolaryngology, opthalmology Back NOD page Last modified: 17-01-2002 00:00

37. Project: Neuromusculaire En Neurometabole Aandoeningen (NIWI) 2) investigation of the following orfan diseases (Brody s disease, McArdle s disease,channelopathies, cerebrotendinous xanthomatosis, ataxia telangiectasia http://www.niwi.knaw.nl/nl/oi/nod/onderzoek/OND1264186/toon

Login NIWI (nl) Onderzoek Informatie NOD - Nederlandse Onderzoek Databank ... Powered by from "Project: Neuromusculaire..." entire NIWI site (nl) Project: Neuromusculaire en neurometabole aandoeningen Titel-Eng Neuromuscular and neurometabolic disorders Samenvatting Samenvatting-Eng Looptijd 01/1995 - onbekend Betrokken organisaties Penvoerder: Afdeling Neurologie (KUN) Betrokken personen Onderzoeker: Drs. J.H. Blok Onderzoeker: Dr.ir. W.N.J.M. Colier Onderzoeker: Dr. G. Drost Onderzoeker: Dr. B.G.M. van Engelen Onderzoeker: Dr. A.A.W.M. Gabreëls-Festen Onderzoeker: Dr. C.J. Houtman Onderzoeker: Dr. J.G.N. de Jong Onderzoeker: Dr. P.J.H. Jongen Onderzoeker: Drs. E.L. van der Kooi Onderzoeker: Dr. H.J. ter Laak Onderzoeker: Prof.dr. S.L.H. Notermans Onderzoeker: Dr. K. Roeleveld Onderzoeker: Prof.dr.ir. D.F. Stegeman Onderzoeker: Drs. A.S. Verrips Onderzoeker: Drs. H.T.F.M. Verzijl Onderzoeker: Drs. H.M. Vingerhoets Onderzoeker: Dr. O.J.M. Vogels Onderzoeker: Drs. R.A.C. van de Wetering Onderzoeker: Prof.dr. R.A. Wevers

38. îùøã äáøéàåú Mendelian Disorders among Jews. cerebrotendinous xanthomatosis, Autosomal recessive(MIM 213700) The symptoms as well as the age of onset vary in this disease. http://www.health.gov.il/pages/default.asp?pageid=1155&parentid=1137&catid=146&m

39. Startplane /Health/Conditions_and_Diseases/Nutrition_and_Metabolism_Disorders/Ch cerebrotendinous xanthomatosis. See also cerebrotendinous xanthomatosis CTX Symptoms presented with this disease, the diagnosis and the treatment. http://www.startplane.com/Health/Conditions_and_Diseases/Nutrition_and_Metabolis

Start Plane About Us Free Webpages Top Health Cerebrotendinous Xanthomatosis Top Cerebrotendinous Xanthomatosis Sites Your Site Here! - Get your site listed on StartPlane! The #1 performance based directory online! See also: Top/Health/Conditions and Diseases/C Links A Case of Cerebrotendinous Xanthomatosis - A case study 26-year-old female developed mental deterioration, general convulsion, cataract and spastic gait in order since her entrance into elementary school. Cerebrotendinous Xanthomatosis: CTX - Symptoms presented with this disease, the diagnosis and the treatment. This category needs an editor Last Updated: 2004-01-09 17:45:58 Search: search the entire directory search this category only Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The content of this directory is based on the Open Directory and may have been modified by DWodp Powered by DWodp pro Dominion Web

40. DISEASE: Cerebrotendinous Xanthomatosis DISEASE Categories (11 of 1). Health Conditions_and_Diseases Nutrition_and_Metabolism_DisordersCholesterol_and_Other_Fats Cerebrotendinous_Xanthomatosis. http://disease.bigtome.com/big/page/Cerebrotendinous_Xanthomatosis

DISEASE: Categories (1-1 of 1) Health: Conditions_and_Diseases: Nutrition_and_Metabolism_Disorders: Cholesterol_and_Other_Fats: Cerebrotendinous_Xanthomatosis Web Pages Cerebrotendinous Xanthomatosis: CTX Symptoms presented with this disease, the diagnosis and the treatment. - http://www.ulf.org/ulf/intro/#Inf6 Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Cerebrotendinous Xanthomatosis Put this Directory on Your Site! Submit a Site Become an Editor

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