81. Birth Disorder Information Directory - X List of Sites. Xanthoma Tuberosum See BroadBetalipoproteinemia. XanthomatosisCerebrotendinous (Cerebral Cholesterinosis, Sterol 27-Hydroxylase Deficiency) http://www.bdid.com/defectx.htm

HOME X X-Linked Lymphoproliferative Disease See Duncan Disease X-Linked Mental Retardation Related Books See Mental Retardation, X-Linked X-Linked Progressive Combined Variable Immunodeficiency See Duncan Disease X-Linked Severe Combined Immunodeficiency See Severe Combined Immunodeficiency, Alymphocytotic/Swiss Type/X-Linked Xanthelasmoidea See Urticaria Perstans Hemorrhagica/with Pigmentosa Xanthinuria (Xanthic Urolithiasis) List of Sites Xanthoma Tuberosum See Broad-Betalipoproteinemia Xanthomatosis Cerebrotendinous (Cerebral Cholesterinosis, Sterol 27-Hydroxylase Deficiency) CEREBROTENDINOUS XANTHOMATOSIS Xanthomatosis cerebrotendinous Xeroderma Pigmentosum List of Sites with Talipes and Enamel Defects See XTC SYNDROME Xerodermic Idiocy of De Sanctic and Cacchione See De Sanctis Cacchione Syndrome XK (Aprosencephaly) Syndrome (Aprosencephaly Syndrome, Aprosencephaly-Stelencephaly Syndrome, Atelencephalic Microcephaly Syndrome, Garcia Lurie Syndrome) List of Sites XLP See Duncan Disease XTC Syndrome (Moynahan's Syndrome III, Xeroderma with Talipes and Enamel Defects) Xeroderma talipes enamel defects Moynahan's syndrome III XX Male Syndrome See De la Chapelle Syndrome XXY List of Sites XY Gonadal Agenesis Syndrome See Testicular Regression Syndrome Xylitol Dehydrogenase Deficiency See Pentosuria HOME

82. CNR-PFI UO FEDERICO Antonio CerebrotendinousXanthomatosis pathophysiological study on bone metabolism, J. Neurol. http://www.aging.cnr.it/uo/uo2_071.htm

Dati anagrafici Dati scientifici Pubblicazioni Prodotti ... Pagina iniziale pfi Consiglio Nazionale delle Ricerche Progetto Finalizzato Invecchiamento Responsabile U.O.: FEDERICO Antonio Qualifica Responsabile scientifico: Professore ordinario Tipo di Ente: Sede della ricerca: Viale Bracci, 2 - 53100 - Siena tel.: 0577-585763 - 263355 - fax: 0577-40327 E-mail: federico@unisi.it Dati scientifici sottoprogetto Studio Epidemiologico Longitudinale linea Modificazioni del sistema nervoso durante l'invecchiamento e loro correlati patologici obiettivo Studi sperimentali e clinici sulla farmaco-cinetica, l'efficacia terapeutica e la valutazione degli effetti collaterali dei farmaci attivi sul sistema nervoso nell'anziano. Tema della ricerca Effetto collaterale di farmaci sul metabolismo mitocondriale. Studio in vitro su linee cellulari ed in vivo su popolazioni. Presenza di sintomi clinici minori negli eterozigoti per malattie neurogenetiche dismetaboliche. Parole chiave mitocondri lisosomi eterozigoti demenze mitochondria lysosomes carrier dementias note scientifiche: Si è contribuito alla migliore conoscenza delle basi patogenetiche e delle manifestazioni cliniche di alcune malattie neurometaboliche ad esordio tardivo.

83. SpringerLink: Acta Neuropathologica - Abstract Volume 90 Issue 2 (1995) Pp 213-2 Abstract Volume 90 Issue 2 (1995) pp 213220. The neuropathology of cerebrotendinousxanthomatosis revisited a case report and review of the literature. http://link.springer-ny.com/link/service/journals/00401/bibs/5090002/50900213.ht

Acta Neuropathologica ISSN: 0001-6322 (printed version) ISSN: 1432-0533 (electronic version) Table of Contents Abstract Volume 90 Issue 2 (1995) pp 213-220 The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature D. Soffer (1), Daniel Benharroch (2), Vladimir Berginer (3) (1) Department of Pathology (Neuropathology), Hadassah Medical Center, P.O.Box 12000, IL-91120 Jerusalem, Israel Fax: 972-2-434434 (2) Department of Pathology, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University, Beer-Sheva, Israel (3) Department of Neurology, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University, Beer-Sheva, Israel Received: 28 November 1994 / Revised, accepted: 22 February 1995 Abstract Key words Article not available online Last change: October 3, 1997 helpdesk.link@springer.de

84. Interesting Case No. 1 - Loyola University's Department Of Pathology Prepared by Karen Thompson, MD, and Meena Gujrati, MD. The diagnosis is cerebrotendinousxanthomatosis (CTX) Biochemical Analysis of brain tissue http://www.luhs.org/depts/path/education/cases/cs1dg.htm

CASE No. 1: 56-YEAR-OLD MALE WITH ATAXIA Prepared by: Karen Thompson, M.D., and Meena Gujrati, M.D. The diagnosis is cerebrotendinous xanthomatosis (CTX) Biochemical Analysis of brain tissue: Cholesterol Cholestanol Ratio Cerebellum (control) Cerebellum (patient) Frontal lobe (control) Frontal lobe (patient) Cerebrotendinous xanthomatosis (CTX) facts: Rare familial lipid storage disease First described by Van Bogaert, et al. (1937) Defective bile acid synthesis resulting in accumulation of cholestanol with xantoma formation Central nervous system, peripheral nervous systems, tendons, and bile Juvenile cataracts Presents 2nd - 3rd decade Cataracts contain high level of cholestanol Tendon xanthomas Presents 2nd - 3rd decade Preferentially involves Achilles tendon Quadriceps, triceps, and finger extensor tendons can also be involved CNS Involvement: Progressive neurological dysfunction Initial symptoms appear by age 20 Mild mental retardation to severe dementia Ataxia, dysarthria

85. List Of Tests Cholest 8(9) en3ß-ol (Chondrodysplasia Punctata). Cholestanol (Cerebrotendinousxanthomatosis). Sitosterol (Sitosterolemia, Phytosterolemia). http://www.genetics.kennedykrieger.org/TestList.htm

Accreditation Faculty History List of Tests ... Print all test forms To view forms in PDF (Portable Document Format), you must download Adobe Acrobat Reader which is free from Adobe at http://www.adobe.com/prodindex/acrobat/readstep.html If you wish to print all test forms at once please use the following link: All Forms Clinical Mass Spectrometry Section Organic acid gas chromatography/mass spectrometry N-acetyl-l-aspartic acid (Canavan disease) Canavan disease - prenatal diagnosis 3-Methylglutaconic acid ... Mevalonic Acid Peroxisomal Diseases Section Plasma Very Long Chain Fatty Acids: Includes Phytanic Acid (screening test for peroxisomal disorders) Red Blood Cell Plasmalogen Content (screening test for rhizomelic chondrodysplasia punctata) Plasma Total Lipid Fatty Acid Profile: Includes C8 to C26 saturated, monounsaturated, polyunsaturated, trans and branched chain fatty acids Red Blood Cell Total Lipid Fatty Acid Profile: Includes C8 to C26 saturated, monounsaturated, polyunsaturated fatty acids and plasmalogens ... DNA Testing for X-Linked Adrenoleukodystrophy Site best viewed with:

86. Health Library - Leukodystrophy Synonyms. None. Disorder Subdivisions. Refsum's Disease; CerebrotendinousXanthomatosis; Metachromatic Leukodystrophy; Globoid Leukodystrophy; http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

87. GM98: Locus Details Cytochrome P450, subfamily XXVII (steroid 27hydroxylase, cerebrotendinousxanthomatosis). Cross-References. UniGene, Hs.82568, Cytochrome http://www.ncbi.nlm.nih.gov/genemap98/loc.cgi?ID=5364

88. 1Up Health > Health Links Directory > Conditions And Diseases: Musculoskeletal D Categories. http://www.1uphealth.com/links/musculoskeletal-disorders-connective-tissue.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Musculoskeletal Disorders : Connective Tissue Description Categories Arthritis Behcet's Syndrome Cerebrotendinous Xanthomatosis Ehlers-Danlos Syndrome ... Wolman's See Related Categories Health: Conditions and Diseases: Skin Disorders Health: Support Groups Sites Connective Tissue Disease A definition from the Merriam-Webster's Medical Dictionary. Connective Tissue Disorder Site Developed by Sandy Simmons. Includes information about many different conditions, with personal experiences and treatments. Connective Tissue Issues A message board created to discuss and share stories and experiences concerning connective tissue disorders. Join, read and post from this site. Hypermobility and Fibromyalgia Information about joint hypermobility (Ehlers-Danlos Syndrome), fibromyalgia and chronic fatigue syndrome. Hypermobility Syndrome Association Information and articles on the Hypermobility Syndrome. Details of current research, FAQ, discussion boards and a section for kids and teens.

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