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*  Cerebrotendinous Xanthomatosis | Springer for Research & Development
Cerebrotendinous xanthomatosis (CTX) is a rare, disabling genetic disorder in which cholestanol and cholesterol accumulate in ... 1985) Biosynthesis of bile acids in cerebrotendinous xanthomatosis. J Clin Invest 76: 744-751PubMedCrossRefGoogle Scholar ... 1987) Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis. Metabolism 36: 270-276PubMedCrossRefGoogle Scholar ... Wolman M (1976) Xanthomatoses. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 27. Amsterdam: North Holland ...
https://rd.springer.com/chapter/10.1007/978-3-662-02568-0_21
*  A case of cerebrotendinous xanthomatosis. II: The sterol content of a cataractous lens. | British Journal of Ophthalmology
The cholestanol content of a cataractous lens nucleus from a patient with cerebrotendinous xanthomatosis (CTX) was quantified ... A case of cerebrotendinous xanthomatosis. II: The sterol content of a cataractous lens. ... A case of cerebrotendinous xanthomatosis. II: The sterol content of a cataractous lens. ...
http://bjo.bmj.com/content/74/10/629
*  Normal cholesteremic xanthomatosis | Article about normal cholesteremic xanthomatosis by The Free Dictionary
Find out information about normal cholesteremic xanthomatosis. A childhood syndrome characterized by exopthalmos, diabetes ... insipidus, and softened or punched-out areas in the bones Explanation of normal cholesteremic xanthomatosis ... redirected from normal cholesteremic xanthomatosis). Also found in: Dictionary, Thesaurus, Medical. Hand-Schüller-Christian ... Normal cholesteremic xanthomatosis , Article about normal cholesteremic xanthomatosis by The Free Dictionary https:// ...
https://encyclopedia2.thefreedictionary.com/normal+cholesteremic+xanthomatosis
*  Social Security News: Additions To Compassionate Allowances
Cerebrotendinous Xanthomatosis. *Child Neuroblastoma Listing 113.21. *Child Non-Hodgkin Lymphoma Listing 113.05 ...
https://socsecnews.blogspot.com/2012/04/additions-to-compassionate-allowances.html
*  Hypercholesterolaemic Xanthomatosis | The BMJ
Hypercholesterolaemic Xanthomatosis. Br Med J 1961; 1 doi: https://doi.org/10.1136/bmj.1.5229.847 (Published 25 March 1961) ...
http://www.bmj.com/content/1/5229/847
*  An Unusual Case of Hand Xanthomatosis
... Gazi Huri1,2 and Noah Joachim3 ... C. Mirzanli, C. Z. Esenyel, K. Ozturk, A. Baris, and Y. Imren, "Cerebrotendinous xanthomatosis presenting with bilateral ...
https://www.hindawi.com/journals/crior/2013/183018/ref/
*  Cerebrotendineous xanthomatosis - Wikipedia
Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis, is an autosomal ... ISBN 0-7216-2921-0. Online Mendelian Inheritance in Man (OMIM) 606530 Cerebrotendinous Xanthomatosis~treatment at eMedicine ... GeneReviews/NCBI/NIH/UW entry on Cerebrotendinous Xanthomatosis CTX Patient Advocate/Support site. ... "Cerebrotendinous xanthomatosis: Neuropathological findings". J. Neurol. 255 (6): 839-42. doi:10.1007/s00415-008-0729-6. PMID ...
https://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis
*  Normolipoproteinemic xanthomatosis - Wikipedia
Normolipoproteinemic xanthomatosis is a cutaneous condition characterized by a xanthoma in the presence of normal cholesterol ... Cerebrotendinous xanthomatosis Verruciform xanthoma Skin lesion James, William D.; Berger, Timothy G.; et al. (2006). Andrews' ...
https://en.wikipedia.org/wiki/Normolipoproteinemic_xanthomatosis
*  Search of: 'cerebrotendinous xanthomatosis' - List Results - ClinicalTrials.gov
... and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis. *Cerebrotendinous Xanthomatosis ... To calculate the prevalence of Cerebrotendinous Xanthomatosis (CTX) in a patient population diagnosed up to age 21 with early- ... Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis. *Cerebrotendinous ...
https://clinicaltrials.gov/ct2/results?cond=%22cerebrotendinous+xanthomatosis%22&show_flds=Y
*  Cerebrotendinous xanthomatosis - Genetics Home Reference - NIH
Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body. ... Other features of cerebrotendinous xanthomatosis include clouding of the lenses of the eyes (cataracts) and chronic diarrhea in ... Mutations in the CYP27A1 gene cause cerebrotendinous xanthomatosis. The CYP27A1 gene provides instructions for producing an ... Björkhem I. Cerebrotendinous xanthomatosis. Curr Opin Lipidol. 2013 Aug;24(4):283-7. doi: 10.1097/MOL.0b013e328362df13. Review ...
https://ghr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis
*  Enlarged cauda equina nerve roots in Cerebrotendinous Xanthomatosis
Kalina, P. (2011) Enlarged cauda equina nerve roots in Cerebrotendinous Xanthomatosis. Open Journal of Clinical Diagnostics, 1 ... Pilo, B., De Blas, G. and Sobrido, M. (2011) Neurophysiological study in cerebrotendinous xanthomatosis. Muscle Nerve, 43, 531- ... Wang, Z., Yuan, Y. and Zhang, W. (2007) Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe ... 2011) Neuromuscular abnormality and autonomic dysfunction in patients with cerebrotendinous xanthomatosis. Bio Medical Central ...
https://www.scirp.org/Journal/PaperInformation.aspx?PaperID=9143
*  Cerebrotendinous Xanthomatosis (CTX) Prevalence Study - Full Text View - ClinicalTrials.gov
Xanthomatosis, Cerebrotendinous. Xanthomatosis. Lens Diseases. Eye Diseases. Lipid Metabolism, Inborn Errors. Metabolism, ... Cerebrotendinous Xanthomatosis (CTX) Prevalence Study. The safety and scientific validity of this study is the responsibility ... Cerebrotendinous Xanthomatosis. CTX Prevalence Study. CTX. Idiopathic Bilateral Cataracts. Cataracts. Bilateral Cataracts. ... To calculate the prevalence of Cerebrotendinous Xanthomatosis (CTX) in a patient population diagnosed up to age 21 with early- ...
https://www.clinicaltrials.gov/ct2/show/NCT02638220?term=Retrophin&rank=2
*  Chronic idiopathic xanthomatosis | definition of chronic idiopathic xanthomatosis by Medical dictionary
What is chronic idiopathic xanthomatosis? Meaning of chronic idiopathic xanthomatosis medical term. What does chronic ... Looking for online definition of chronic idiopathic xanthomatosis in the Medical Dictionary? chronic idiopathic xanthomatosis ... chronic idiopathic xanthomatosis. Also found in: Dictionary, Thesaurus, Encyclopedia. xanthomatosis. [zan″tho-mah-to´sis] an ... chronic idiopathic xanthomatosis Hand-Schüller-Christian disease.. chron·ic id·i·o·path·ic xan·tho·ma·to·sis. vague or ...
http://medical-dictionary.thefreedictionary.com/chronic+idiopathic+xanthomatosis
*  Database statistics - Cerebrotendinous Xanthomatosis - Leiden Open Variation Database
Cerebrotendinous Xanthomatosis. Sterol 27-hydroxylase (CYP27A1) LOVD v.2.0 Build 36 [ Current LOVD status ]. Register as ...
https://grenada.lumc.nl/LOVD2/ctx/variants_statistics.php?select_db=CYP27A1
*  Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol...
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder believed to be exclusively caused by mutations in ... Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder believed to be exclusively caused by mutations in ... Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol ... article{eea37fd7-4811-4a97-9e6e-316829feabe4, abstract = {Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive ...
https://lup.lub.lu.se/search/publication/666415
*  DMOZ - Health: Conditions and Diseases: Nutritional and Metabolic Disorders: Cholesterol and Other Fats: Cerebrotendinous...
"Health ... Cerebrotendinous Xanthomatosis" search on: AOL - Ask - Bing - DuckDuckGo - Gigablast - Google - ixquick - Yahoo - ... Health Conditions and Diseases Nutritional and Metabolic Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis 2 ... Wikipedia: Cerebrotendineous Xanthomatosis Encyclopedia article on this inherited disorder associated with the deposition of a ... GeneReviews: Cerebrotendinous Xanthomatosis Includes diagnosis, clinical description, differential diagnosis, management and ...
http://dmoztools.net/Health/Conditions_and_Diseases/Nutritional_and_Metabolic_Disorders/Cholesterol_and_Other_Fats/Cerebrotendinous_Xanthomatosis/
*  A Case of Medically Unresponsive Bilateral Achilles Tendon Xanthomas in Cerebro Tendinous Xanthomatosis Treated with Surgical...
A Case of Medically Unresponsive Bilateral Achilles Tendon Xanthomas in Cerebro Tendinous Xanthomatosis Treated with Surgical ... A Case of Medically Unresponsive Bilateral Achilles Tendon Xanthomas in Cerebro Tendinous Xanthomatosis Treated with Surgical ... "A Case of Medically Unresponsive Bilateral Achilles Tendon Xanthomas in Cerebro Tendinous Xanthomatosis Treated with Surgical ...
http://hospital.rrmch.org/publication/a-case-of-medically-unresponsive-bilateral-achilles-tendon-xanthomas-in-cerebro-tendinous-xanthomatosis-treated-with-surgical-excision-and-reconstruction/
*  Skin Complications: American Diabetes Association®
Eruptive Xanthomatosis. Eruptive xanthomatosis is another condition caused by diabetes that's out of control. It consists of ... These include diabetic dermopathy, necrobiosis lipoidica diabeticorum, diabetic blisters, and eruptive xanthomatosis. ...
http://www.diabetes.org/living-with-diabetes/complications/skin-complications.html?loc=skin-care
*  Frontiers | Bile Acids in Neurodegenerative Disorders | Frontiers in Aging Neuroscience
Cerebrotendinous Xanthomatosis. Cerebrotendinous xanthomatosis (CTX) is a very rare autosomal recessive disorder caused by ... Bjorkhem, I. (2013). Cerebrotendinous xanthomatosis. Curr. Opin. Lipidol. 24, 283-287. doi: 10.1097/MOL.0b013e328362df13 ... Björkhem, I., and Hansson, M. (2010). Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined ... and mutations in this enzyme can cause cerebrotendinous xanthomatosis as described below. ...
https://www.frontiersin.org/articles/10.3389/fnagi.2016.00263/full
*  Impact of Endocrine Disorders on Skin Disorders | SpringerLink
Eruptive Xanthomatosis. Xanthomas are yellow-tan-orange papules, plaques, and patches, often appearing on the palms and elbows ... The diagnosis of eruptive xanthomatosis should prompt further investigation and treatment of hyperglycemia. ...
https://link.springer.com/referenceworkentry/10.1007%2F978-3-319-66362-3_15-1
*  Xanthoma multiplex | Define Xanthoma multiplex at Dictionary.com
See xanthomatosis. The American Heritage® Stedman's Medical Dictionary. Copyright © 2002, 2001, 1995 by Houghton Mifflin ...
http://www.dictionary.com/browse/xanthoma-multiplex?qsrc=2446
*  Magnetic Resonance of Myelin, Myelination, and Myelin Disorders | Jacob Valk | Springer
Cerebrotendinous Xanthomatosis. Valk, Professor Dr. Jacob (et al.). Pages 123-125 Preview Buy Chapter $29.95 ...
https://www.springer.com/us/book/9783662025680?wt_mc=
*  Compound Report Card
Xanthomatosis, Cerebrotendinous. D019294. Orphanet:909. Cerebrotendinous xanthomatosis. 2. ClinicalTrials. Clinical Data. ...
https://www.ebi.ac.uk/chembl/compound/inspect/CHEMBL503
*  Clinical and Pathophysiological Investigations Into Erdheim Chester Disease - Full Text View - ClinicalTrials.gov
Xanthomatosis. Fibrosis. Osteosclerosis. Erdheim-Chester Disease. ECD. Additional relevant MeSH terms: Fibrosis. Primary ...
https://clinicaltrials.gov/ct2/show/NCT01417520
*  Pathophysiology
Primary lymphoedema associated with xanthomatosis, vaginal lymphorrhoea and intestinal lymphangiectasia. Br J Dermatol. 2002 ...
https://emedicine.medscape.com/article/1087313-overview