Extractions: 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
Extractions: 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 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.
Extractions: 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). 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).
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
:: 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
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
Extractions: Wilson's Disease General features l Chromosome 11q13 Clinical Features Treatment l Branched chain keto acid dehydrogenase E1, alpha polypeptide ; Chromosome 19q13.2 Clinical Features Acute axonal neuropathy: Adult; ? Specific mutation Onset: Over days Course: Slow moderate improvement Nerve biopsy: Axonal loss; Endoneurial edema
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
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
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
Extractions: Login NIWI (en) Research Information NOD - Dutch Research Database ... Powered by from "Project: Cerebrotendinou..." entire NIWI site (en) 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
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
Extractions: 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
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
