Extractions: This Article Full Text (PDF) Purchase Article View Shopping Cart ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Reshef, A. Articles by Leitersdorf, E. A Reshef, V Meiner, VM Berginer and E Leitersdorf Division of Medicine, Hadassah University Hospital, Jerusalem, Israel. Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive sterol storage disease characterized by the accumulation of a bile alcohol, cholestanol, in diverse tissues. The disorder is manifested by extensive nervous system involvement, juvenile cataracts, tendon xanthomas, and premature atherosclerosis and is caused by sterol 27- hydroxylase (EC 1.14.13.15) mutations. Recently, two mutations were shown to cause CTX in
Extractions: This Article Full Text (PDF) Purchase Article View Shopping Cart ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Garuti, R. Articles by Calandra, S. R Garuti, N Lelli, M Barozzini, R Tiozzo, MT Dotti, A Federico, AM Ottomano, A Croce, S Bertolini and S Calandra Dipartimento di Scienze Biomediche, Universita di Modena, Italy. Cerebrotendinous xanthomatosis (CTX) is an inherited sterol storage disease associated with the accumulation of cholestanol and cholesterol in various tissues. CTX is caused by a deficiency of sterol-27- hydroxylase, a mitochondrial enzyme that oxidizes the side chain of cholesterol in the pathway leading to the formation of bile acids. In the present study we
Dorlands Medical Dictionary cerebrotendinous xanthomatosis, a lipid storage disease, inherited as an autosomalrecessive trait, characterized by xanthomas of the tendons, http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS
Extractions: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Barkhof, F. Articles by Valk, J. Radiology. RSNA Frederik Barkhof, MD , Aad Verrips, MD , Pieter Wesseling, MD , Marjo S. van der Knaap, MD , Baziel G. M. van Engelen, MD , Antoine Keyser, MD , Ron A. Wevers, MD and Jaap Valk, MD From the Depts of Radiology (F.B., J.V.) and Pediatric Neurology (M.S.v.d.K.), Academic Hospital "Vrije Universiteit," De Boelelaan 1118, 1081 HV Amsterdam, the Netherlands; and the Depts of Pediatric Neurology (A.V., F.J.M.G.), Pathology (P.W.), and Neurology (P.W., B.G.M.v.E., A.K.) and the Laboratory of Pediatrics and Neurology (R.A.W.), Univ Hosp Nijmegen, the Netherlands. Received Sep 15, 1999; revision requested Nov 5; final revision received Mar 31, 2000; accepted May 1. Address correspondence to F.B. (e-mail:
Extractions: This Article Abstract Figures Only Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Barkhof, F. Articles by Valk, J. Radiology. RSNA Frederik Barkhof, MD , Aad Verrips, MD , Pieter Wesseling, MD , Marjo S. van der Knaap, MD , Baziel G. M. van Engelen, MD , Antoine Keyser, MD , Ron A. Wevers, MD and Jaap Valk, MD From the Depts of Radiology (F.B., J.V.) and Pediatric Neurology (M.S.v.d.K.), Academic Hospital "Vrije Universiteit," De Boelelaan 1118, 1081 HV Amsterdam, the Netherlands; and the Depts of Pediatric Neurology (A.V., F.J.M.G.), Pathology (P.W.), and Neurology (P.W., B.G.M.v.E., A.K.) and the Laboratory of Pediatrics and Neurology (R.A.W.), Univ Hosp Nijmegen, the Netherlands. Received Sep 15, 1999; revision requested Nov 5; final revision received Mar 31, 2000; accepted May 1. Address correspondence to F.B. (e-mail:
EMedicine - Hansen Disease : Article By James M Arrington, MD cerebrotendinous xanthomatosis Leishmaniasis Discoid lupus erythematosus Basalcell carcinoma Tuberculosis colliquativa Actinomyces mexicanus (Mycetoma) http://www.emedicine.com/oph/topic743.htm
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Ophthalmology Lid Last Updated: February 21, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: leprosy, Hansen's disease, Mycobacterium leprae M leprae AUTHOR INFORMATION Section 1 of 11 Author Information Introduction Clinical Differentials ... Bibliography Author: James M Arrington, MD , Former Chief and Chairman, Department of Ophthalmology, USPHS Hospital, San Francisco; Former Clinical Professor, Department of Ophthalmology, Texas Tech University Health Science Center School of Medicine James M Arrington, MD, is a member of the following medical societies: Alpha Omega Alpha American Academy of Ophthalmology American Medical Association , and Contact Lens Association of Ophthalmologists Editor(s): Jack L Wilson, PhD , Distinguished Professor, Department of Anatomy and Neurobiology, University of Tennessee at Memphis; Francisco Talavera, PharmD, PhD
EMedicine - Sitosterolemia : Article By Robert D Steiner, MD cerebrotendinous xanthomatosis cerebrotendinous xanthomatosis, andbetasitosterolemia, and xanthomatosis. In Stanbury B, Wyngaarden, Fredrickson DS, http://www.emedicine.com/ped/topic2110.htm
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: July 1, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: phytosterolemia, pseudohomozygous familial hypercholesterolemia, pseudohomozygous hypercholesterolemia, sitosterol, stigmasterol, campesterol, plant sterols, coronary atherosclerosis, , xanthomas, autosomal recessive genetic condition, bile acid-binding resins, xanthelasma, corneal arcus, hemolytic anemia, thrombocytopenia, lipid disorder, lipid disease, lipid storage disorder, lipid storage disease, hyperlipidemia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
Extractions: This Article Full Text (PDF) Submit a response Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Dormans, T. P. Articles by Cox, N. TP Dormans, A Verrips, J Bulten and N Cox Department of Internal Medicine, University Hospital Nijmegen, The Netherlands. A 41-year-old woman had progressive shortness of breath. Cerebrotendinous xanthomatosis was diagnosed 4 years before. An open- lung biopsy showed the simultaneous presence of cerebrotendinous xanthomatosis and pulmonary lymphangioleiomyomatosis. This is perhaps the first time the coincidental occurrence of these two diseases is described.
1998 - Journal Of Dermapathology cerebrotendinous xanthomatosis (CTX) tanisi alan 43 yasindaki erkek hastanin 25 cerebrotendinous xanthomatosis ilk kez 1937 de Bogaert tarafindan mental http://www.ato.org.tr/konuk/tdp/tjod/1998-01/9852.html
Extractions: Cerebrotendinous xanthomatosis (CTX) tanýsý alan 43 yaþýndaki erkek hastanýn 25 senedir sol topukta aþil tendonu üzerinde ve diz altýnda, 4 senedir sað topukta aþil tendonu üzerinde ve sað dizde semimobil ve aðrýsýz kitleleri mevcuttu. Oldukça nadir olan ve otozomal resessif olarak geçen CTX'in klinik bulgularý; tendinöz ksantomalar, katarakt, nörolojik fonksiyon bozukluðu, demans, ataksi, hafifçe yüksek serum kolesterol seviyesi ve koroner arter hastalýðýdýr. Çoðunlukla lezyonlar el ve ayakta ekstensör tendonlarýn üzerinde ortaya çýkabileceði gibi aþil ve patella tendonlarý da tutulabilmektedir.
Journal Of Pediatric Gastroenterology And Nutrition - UserLogin Treatment and followup of children with cerebrotendinous xanthomatosis. Eur JPediatr 1998;157313-6. Medline Link CrossRef Context Link http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-200504000-00016.htm
British Library Direct: Order Details Library A case of familial type IIa hypercholesterolemia with the clinicalfeatures similar to cerebrotendinous xanthomatosis Clinical Neurology tokyo- http://direct.bl.uk/research/50/32/RN082361900.html
Extractions: This is an article from British Library Direct, a new service that allows you to search across 20,000 journals for free and order full text using your credit card. Article details Article title A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis Author Sakae, N. Taniwaki, T. Arakawa, K. Yamada, T. Kira, J.-i. Journal title CLINICAL NEUROLOGY -TOKYO- Bibliographic details 2000, VOL 40; PART 3, pages 222-226 Publisher SOCIETAS NEUROLOGICA JAPONICA Country of publication Japan ISBN ISSN Language Original Pricing To buy the full text of this article you pay:
Extractions: Vol. 94 No. 1, January 1976 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Kearns WP Wood WS Contact me when this article is cited W. P. Kearns and W. S. Wood
Mayo Clinic Proceedings cerebrotendinous xanthomatosis (CTX) is an extremely rare autosomal recessive cerebrotendinous xanthomatosis is clinically characterized by tendon http://www.mayoclinicproceedings.com/inside.asp?AID=380&UID=
Extractions: Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Morgan, S. J. Articles by Bosanquet, R. C. British Journal of Ophthalmology, 1989, Vol 73, 1011-1014 SJ Morgan, P McKenna and RC Bosanquet
Abnormal High Density Lipoproteins In Cerebrotendinous Xanthomatosis. Salen G. Cholestanol deposition in cerebrotendinous xanthomatosis. cerebrotendinous xanthomatosis. The storage of cholestanol within the nervous system. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=370925
Connexion Genetic analysis of a Japanese cerebrotendinous xanthomatosis family cerebrotendinous xanthomatosis in the israeli druze molecular genetics and http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=CYP27A1
?050321 Translate this page cerebrotendinous xanthomatosis in three siblings from a Taiwanese family. cerebrotendinous xanthomatosis a rare disease with diverse manifestations. http://www.wanfangdata.com.cn/qikan/periodical.Articles/zhsjk/zhsj2005/0503/0503
CYP27A1 - Cytochrome P450 27, Mitochondrial Precursor upregulated in Cyp27-/- mice but not in cerebrotendinous xanthomatosis. man with cerebrotendinous xanthomatosis genetic analysis of the sterol http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/87609.html
Extractions: A series of homologated 1 alpha-hydroxyvitamin D3 and 1,25-dihydroxyvitamin D3 molecules with one to three extra carbons in the side chain were used to examine the substrate preferences and hydroxylation site selection mechanisms of the liver vitamin D3-25-hydroxylase ( ) and the target cell 25-hydroxyvitamin D3-24-hydroxylase ( Abstract-298551
