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.
Extractions: 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.
Extractions: 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
Extractions: 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 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
Xanthoma cerebrotendinous xanthomatosis a rare disease with diverse manifestations. cerebrotendinous xanthomatosis is a rare autosomal recessive lipidstorage http://www.thedoctorsdoctor.com/diseases/xanthoma.htm
Extractions: 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.
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
Extractions: Back to Main List 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.
Extractions: 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: Oxford University Press 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
Extractions: 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: Oxford University Press 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
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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/
Extractions: 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
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
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
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Extractions: 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.
*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
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
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
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
Extractions: 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.
Extractions: 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) 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
