21. Xanthomatosis cerebrotendinous xanthomatosis is an autosomal recessive disease characterizedby xanthomas, cataracts, progressive cerebellar ataxia and dementia. http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/XANTHOMATOSIS.

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Xanthomatosis, a condition characterized by the presence of multiple xanthomas . These disorders have a predilection for involving tendons about the hands, elbows and heels. Variable numbers of foam cells are seen in the tumours. In some cases xanthomatosis is associated with metabolic or endocrine disorders, such as hypercholesterolaemia and diabetes mellitus . In the hyperlipoproteinaemias , xanthomatous collections occur in soft tissue, tendinous, subperiosteal and intraosseous locations. Cerebrotendinous xanthomatosis is an autosomal recessive disease characterized by xanthomas, cataracts, progressive cerebellar ataxia and dementia. The biochemical basis is unknown, but cholesterol and cholesterol-like crystals accumulate in the xanthomas and in the white matter of the brain. DR The Encyclopaedia of Medical Imaging Volume III 1 Corporate Products Financial Services Our Commitment ... Terms of Conditions

22. Arch Neurol -- Abstract: Cerebrotendinous Xanthomatosis: A Rare Disease With Div Biol. 2004;2481548166. ABSTRACT FULL TEXT. cerebrotendinous xanthomatosisJuvenile Cataract and Chronic Diarrhea Before the Onset of Neurologic Disease http://archneur.ama-assn.org/cgi/content/abstract/59/4/527

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 59 No. 4, April 2002 Featured Link E-mail Alerts Neurological Review Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Related articles in this issue Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Moghadasian MH Scudamore CH Articles that cite this article ISI Web of Science (6) ... Contact me when this article is cited Topic Collections Neurology, Other Topic Collection Alerts Cerebrotendinous Xanthomatosis A Rare Disease With Diverse Manifestations Mohammed H. Moghadasian, PhD Gerald Salen, MD Jiri J. Frohlich, MD Charles H. Scudamore, MD Arch Neurol. This mini-review deals with a new appraisal of cerebrotendinous xanthomatosis. In addition to neurologic symptoms, patients with cerebrotendinous xanthomatosis develop cataracts, diarrhea

23. Arch Neurol -- Abstract: Peripheral Neuropathy In Cerebrotendinous Xanthomatosis Peripheral neuropathy in cerebrotendinous xanthomatosis performed a suralnerve biopsy in a patient with cerebrotendinous xanthomatosis (CTX) because of http://archneur.ama-assn.org/cgi/content/abstract/42/10/1008

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 42 No. 10, October 1985 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 Katz DA Salen G Contact me when this article is cited Peripheral neuropathy in cerebrotendinous xanthomatosis D. A. Katz, L. Scheinberg, D. S. Horoupian and G. Salen We performed a sural nerve biopsy in a patient with cerebrotendinous xanthomatosis (CTX) because of electrophysiologic evidence of peripheral neuropathy. The sections showed a striking loss of myelinated axons, the distribution of which suggested a compressive and/or ischemic process. Biochemical analysis disclosed large amounts of cholestanol, a cholesterol derivative that characteristically accumulates in CTX. However, the

24. Xanthoma cerebrotendinous xanthomatosis a rare disease with diverse manifestations. cerebrotendinous xanthomatosis is a rare autosomal recessive lipidstorage http://www.thedoctorsdoctor.com/diseases/xanthoma.htm

Background Cutaneous xanthomas are often a manifestation of underlying lipid abnormalities. There are many different types classified both by clinical and histopathologic criteria. OUTLINE Gross Appearance and Clinical Variants Bone Breast Cerebrotendinous Eruptive Tuberous Histopathological Features and Variants Papular Plexiform xanthomatous Tuberous Verruciform Special Stains/ Immunohistochemistry/ Electron Microscopy Differential Diagnosis ... Internet Links GROSS APPEARANCE/CLINICAL VARIANTS CHARACTERIZATION General VARIANTS BONE Benign fibrohistiocytoma (xanthomatous variant) of the acromion. A case report and review of the literature. Macdonald D, Fornasier V, Holtby R. Arch Pathol Lab Med 2002 May;126(5):599-601Abstract quote A number of fibrous lesions involving bone display almost identical histologic appearances yet may represent either reactive or neoplastic conditions, resulting in a confusing nomenclature and possible diagnostic confusion. We report the case of a young man with no significant previous medical history who presented with a painful lesion in the left shoulder, which consisted almost entirely of xanthomatous material. We discuss the possible differential diagnosis of this lesion and why benign fibrous histiocytoma is the preferred terminology for this lesion.

25. Type_Document_Title_here cerebrotendinous xanthomatosis. Xanthomas is a term describing the presence ofyellowish fatty tumours on the tendons, which is a specific finding in the http://www.alds.org.au/ctx.html

Back to Main List CEREBROTENDINOUS XANTHOMATOSIS Xanthomas is a term describing the presence of yellowish fatty tumours on the tendons, which is a specific finding in the diagnosis of Cerebrotendinous Xanthomatosis. Most often found in the Achilles tendon, this revealing attribute tends to be missed unless specifically looked for. Patients with CTX may present first with cataracts or with mild mental retardation. Later on, patients may develop seizures, emotional or psychiatric disturbances, and motor deficits. CTX has an autosomal recessive pattern of inheritance. CTX is usually diagnosed by measuring the levels of bile alcohols in blood or urine, or of a substance called cholestanol in the blood. Cholestanol resembles cholesterol chemically, but can be distinguished from it by special chemical tests. The biochemical basis of CTX is complex, but advances are beginning to be made toward understanding it. Diagnosis of the illness is important, since it is by far the most treatable of the leukodystrophies. Much encouragment has been gained through the observation that certain bile acids, administered orally, can prevent further progression of the illness, and may even bring about improvement. There is a very favorable response to chenodeoxycholic acid, a medication that can be taken by mouth.

26. Spinal Xanthomatosis: A Variant Of Cerebrotendinous Xanthomatosis -- Verrips Et Key Words cerebrotendinous xanthomatosis; myelopathy; MRI; pathology cerebrotendinous xanthomatosis The Spectrum of Imaging Findings and the http://brain.oxfordjournals.org/cgi/content/abstract/122/8/1589

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text FREE Full Text (PDF) 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 ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (13) Request Permissions PubMed PubMed Citation Articles by Verrips, A. Brain, Vol. 122, No. 8, 1589-1595, August 1999 Oxford University Press Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis A. Verrips F. Barkhof B. G. M. Van Engelen P. Wesseling J. A. F. M. Luyten R. A. Wevers J. Stam J. H. J. Wokke L. P. W. J. van den Heuvel A. Keyser and Departments of Neurology, Pathology and Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, Department of Diagnostic Radiology, Free University Hospital, Department of Neurology, Academic Medical Center and

27. Spinal Xanthomatosis: A Variant Of Cerebrotendinous Xanthomatosis -- Verrips Et cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease, Ocular and systemic manifestations of cerebrotendinous xanthomatosis letter. http://brain.oxfordjournals.org/cgi/content/full/122/8/1589

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract FREE Full Text (PDF) 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 ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (13) Request Permissions PubMed PubMed Citation Articles by Verrips, A. Brain, Vol. 122, No. 8, 1589-1595, August 1999 Oxford University Press Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis A. Verrips F. Barkhof B. G. M. Van Engelen P. Wesseling J. A. F. M. Luyten R. A. Wevers J. Stam J. H. J. Wokke L. P. W. J. van den Heuvel A. Keyser and Departments of Neurology, Pathology and Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, Department of Diagnostic Radiology, Free University Hospital, Department of Neurology, Academic Medical Center and

28. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Nutrition_and_Meta More books about cerebrotendinous xanthomatosis . cerebrotendinous xanthomatosisCTX Symptoms presented with this disease, the diagnosis and the http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Nutrition_a

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Cholesterol and Other Fats : Cerebrotendinous Xanthomatosis Subtopics See Also: Health: Conditions and Diseases: Musculoskeletal Disorders: Connective Tissue Search Google: Cerebrotendinous Xanthomatosis News Books Links [ More news about Cerebrotendinous Xanthomatosis Error: We did not find any matches for your request. [ More books about Cerebrotendinous Xanthomatosis 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 Can't find it? Try searching Science Daily or the entire web with: Web sciencedaily.com Search Our Archives Find: in: All News Sections from: to sort: relevance date more options New Job Postings Find: City: State: ALL AL AK AZ AR CA CO CT DE DC FL GA HI ID IL IN IA KS KY LA ME MD MA MI MN MS MO MT NE NV NH NJ NM NY NC ND OH OK OR PA RI SC SD TN TX UT VT VA WA WV WI WY View: All Jobs by Type All Jobs by Industry Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail Post: Jobs Resumes We want to hear from you!

29. HighWire -- Browse Journals - Cerebrotendinous Xanthomatosis Browse Journals publishing on cerebrotendinous xanthomatosis Journals focusingon cerebrotendinous xanthomatosis (in order by highest focus) http://highwire.stanford.edu/lists/topic_dir/608683/608684/616667/616668/616831/

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Cerebrotendinous Xanthomatosis: (return to Topic List page) Cerebrotendinous Xanthomatosis Sort by: Alphabet Frequency of articles in Cerebrotendinous Xanthomatosis Focus of journal on Cerebrotendinous Xanthomatosis What's this? Journals focusing on Cerebrotendinous Xanthomatosis (in order by highest focus) QJM info free ISSUES Journal of Biochemistry ... Xanthomatosis Cerebrotendinous Xanthomatosis Home Adv. Search For Institutions For Publishers ... partners/suppliers

30. GEMdatabase - Selected Title CONDITIONS, cerebrotendinous xanthomatosis, Metabolic Disorders, MitochondrialDisorders. SUBJECTS. AVAILABILITY, Hard Copy Online Outof-Print http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=849

31. Journal Of Arthroplasty And Arthroscopic Surgery cerebrotendinous xanthomatosis is a rare metabolic disease of autosomal recessive cerebrotendinous xanthomatosis must be considered in the diagnosis of http://arthroplasty-arthroscopy.mc.metu.edu.tr/2001/no1-16.html

32. Case - Cerebrotendinous Xanthomatosis: Report Of Two Brazilian Brothers Two adult brothers with cerebrotendinous xanthomatosis are presented. These casesreview patient pre. http://www.docguide.com/news/content.nsf/cases/6B22B83A5107BB3D85256F6D0063A209

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33. UniProtKB Entry - UniProt [the Universal Protein Resource] gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. enzyme sterol 27hydroxylase underlie cerebrotendinous xanthomatosis. http://www.uniprot.org/entry/Q02318

if(NS) document.write(""); Home Databases UniProtKB hosted by Text Search UniProt Knowledgebase document.write(" "); Home About UniProt Getting Started Databases ... Support/Documentation UniProtKB Entry PIR View Niceprot View SRS View UniProtKB Entry: ENTRY INFORMATION ENTRY NAME ACCESSION NUMBERS CREATED Release 26, 01-JUL-1993 SEQUENCE UPDATE Release 26, 01-JUL-1993 ANNOTATION UPDATE Release 47, 10-MAY-2005 NAME AND ORIGIN OF THE PROTEIN PROTEIN NAME Cytochrome P450 27, mitochondrial precursor DESCRIPTION (EC ) . Cytochrome P-450C27/25; Sterol 26-hydroxylase; Sterol 27-hydroxylase; Vitamin D(3) 25-hydroxylase; 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase GENE NAME SOURCE ORGANISM Homo sapiens TAXONOMY ID NCBI NEWT LINEAGE Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Catarrhini; Hominidae; Homo REFERENCES Cali JJ; Russell DW. Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis. J. Biol. Chem.

34. *606530 CYTOCHROME P450, SUBFAMILY XXVIIA, POLYPEPTIDE 1; CYP27A1 In a 57year-old Japanese male with cerebrotendinous xanthomatosis (213700), (2002) described a Japanese patient with cerebrotendinous xanthomatosis and http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:606530] -e

35. 213700 CEREBROTENDINOUS XANTHOMATOSIS cerebrotendinous xanthomatosis is a rare, inherited lipidstorage disease (1994) treated 7 patients with cerebrotendinous xanthomatosis either with CDCA http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:213700] -e

36. Health/Conditions And Diseases/Nutrition And Metabolism Disorders/Cholesterol An cerebrotendinous xanthomatosis CTX Symptoms presented with this disease, thediagnosis and the treatment. url www.ulf.org/ulf/intro/ Inf6; mozilla.org http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Nutrition_and

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites Cerebrotendinous Xanthomatosis: CTX Symptoms presented with this disease, the diagnosis and the treatment. url: www.ulf.org/ulf/intro/#Inf6 mozilla.org url: mozilla.org/ More Search All the Web AltaVista Gigablast Google USENET ... Yahoo In association with ODP Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Are you a physician or a nurse? Would you like to join us and help patients online by volunteering even a few minutes of your time? Get started here by becoming a member of The Doctors Lounge We subscribe to the HONcode principles. Verify here var st_di="d004"; var st_ai=""; Privacy Statement Editorial Board About us Powered by free portal software from Portal Scripts

37. Bioline International Official Site (site Up-dated Regularly) cerebrotendinous xanthomatosis with oromandibular dyskinesia We present anunusual case of cerebrotendinous xanthomatosis in a female elderly patient http://www.bioline.org.br/request?ni03180

38. Bioline International Official Site (site Up-dated Regularly) elderly patient with recurrent TM joint dislocation and oromandibular dyskinesia.Keywords cerebrotendinous xanthomatosis, Oromandibular dyskinesia. http://www.bioline.org.br/abstract?id=ni03180&lang=en

39. Endotext.com - Diseases Of Bone And Calcium Metabolism, Ch 9 Bibliography underlie cerebrotendinous xanthomatosis J Biol Chem;266(12)777983. in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews http://www.endotext.org/parathyroid/parathyroid3/parathyroidbiblio3.htm

1. Whistler, D. 1645 De morbo puerli anglorum, quem patrio ideiomate indigenae vocant "the rickets" J Hist Med;5:397-415. 2. Mellanby, E. 1919 An experimental investigation on rickets. Lancet;1:407-412. 3. McCollum, E.V., Simmonds, N., Becker, J.E., Shipley, P.G. 1922 An experimental demonstration of the existence of a vitamin which promotes calcium deposition J Biol Chem;53:293-298. 4. Steenbock, H., Black, A. 1924 Fat-soluble vitamins. XVII. The induction of growth-promoting and calcifying properties in a ration by exposure to ultraviolet light J Biol Chem;61:405-422. 5. Huldshinsky, K. 1919 Heilung von rachitis durch kunstalich hohensonne Deut Med Wochenschr;45:712-713. 6. Hess, A.F., Unger, L.F. 1921 Cure of infantile rickets by sunlight J Am Med Assoc;77:39. 7. F.A., A., Bourdillon, R.B., Bruce, H.M., Jenkins, R.G.C., Webster, T.A. 1931 The distillation of vitamin D Proc R Soc;B107:76-90. 8. Windaus, A., Schenck, F., von Werder, F. 1936 Uber das antirachitisch wirksame bestrahlungs-produkt aus 7-dehydro-cholesterin. Hoppe-Seylers Z Physiol Chem;241:100-103. 9. Holick, M.F., Richtand, N.M., McNeill, S.C., Holick, S.A., Henley, J.W., J.T., P.J. 1979 Isolation and identification of previtamin D3 from the skin of exposed to ultraviolet irradiation Biochemistry;18:1003-1008.

40. UniProtKB/Swiss-Prot Entry Q02318 [CP27A_HUMAN] Cytochrome P450 27, Mitochondria SUBCELLULAR LOCATION Mitochondrial. DISEASE Defects in CYP27A1 are the causeof cerebrotendinous xanthomatosis (CTX) MIM213700. http://www.expasy.org/uniprot/Q02318

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers Entered in Swiss-Prot in Release 26, July 1993 Sequence was last modified in Release 26, July 1993 Annotations were last modified in Release 47, May 2005 Name and origin of the protein Protein name Cytochrome P450 27, mitochondrial [Precursor] Synonyms EC Cytochrome P-450C27/25 Sterol 26-hydroxylase Sterol 27-hydroxylase Vitamin D(3) 25-hydroxylase 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase Gene name Name: Synonyms: From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE.

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