ERCC1 Cerebrotendinous xanthomatosis; 213700; CYP27A1 Ceroid lipofuscinosis, neuronal 8; 600143; CLN8 Ceroid lipofuscinosis, ...
Coletta U, Sturgill BC (April 1985). "Isolated xanthomatosis of the small bowel". Hum. Pathol. 16 (4): 422-4. doi:10.1016/S0046 ...
Sitosterolemia and cerebrotendineous xanthomatosis are two rare conditions that can also present with premature atherosclerosis ... Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH (April 2002). "Cerebrotendinous xanthomatosis: a rare disease with diverse ...
Xanthomatosis Niemann-Pick disease "Lipid Storage Diseases Fact Sheet". National Institute of Neurological Disorders and Stroke ...
Normolipoproteinemic xanthomatosis Cerebrotendinous xanthomatosis Skin lesion James, William D.; Berger, Timothy G.; et al. ( ...
Berginer VM, Salen G, Shefer S (December 1984). "Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic ... Chenodeoxycholic acid can be used in the treatment of cerebrotendineous xanthomatosis. The Australian biotechnology company ...
See FDA index page for labels here synd/3122 at Who Named It? Abramov A, Schorr S, Wolman M. Generalized xanthomatosis with ...
GeneReviews/NCBI/NIH/UW entry on Cerebrotendinous Xanthomatosis Cytochrome P-450 CYP27A1 at the US National Library of Medicine ... Mutations in CYP27A1 are associated with cerebrotendineous xanthomatosis, a rare lipid storage disease. Inhibitors of CYP27A1 ... cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families". Journal of Lipid Research. 38 (5 ... results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis". Journal of ...
"Diphenylpyraline-responsive parkinsonism in cerebrotendinous xanthomatosis: long-term follow up of three patients". J Neurol ...
... and Cerebrotendinous Xanthomatosis. The types of lipids involved in Lipid Metabolism include: Triacylglycerols (fats) - see ...
ABCG5 and ABCG8 Genes Cerebrotendinous xanthomatosis Efficacy of treatment should be monitored by regular determinations of ...
Examples of single-gene disorder include Alport's syndrome, Conradi's syndrome, cerebrotendineous xanthomatosis, myotonic ...
... is uncommon, with a female:male ratio of 1:1.1 Normolipoproteinemic xanthomatosis List of cutaneous ...
Abramov A, Schorr S, Wolman M. Generalized xanthomatosis with calcified adrenals. AMA J Dis Child. 1956 Mar;91(3):282-6. PMID ...
Diseases include vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann-Pick type C disease, ...
... s or xanthomata) (condition: xanthomatosis), from Greek ξανθος (xanthos), meaning 'yellow', is a deposition of ...
Alexander disease Canavan disease Cerebrotendinous xanthomatosis Dentatorubral-pallidoluysian atrophy Epilepsy Fatal familial ...
... trisomy Xq25 X fragile site folic acid type Xanthic urolithiasis Xanthine oxydase deficiency Xanthinuria Xanthomatosis ...
... xanthomatosis MeSH C18.452.872.929.950 --- wolman disease MeSH C18.452.872.929.975 --- xanthomatosis, cerebrotendinous MeSH ... xanthomatosis, cerebrotendinous MeSH C18.452.648.595 --- lysosomal storage diseases MeSH C18.452.648.595.201 --- cholesterol ...
... xanthomatosis, cerebrotendinous MeSH C16.320.565.580 --- lysosomal storage diseases MeSH C16.320.565.580.201 --- cholesterol ...
... an antibiotic Cerebrotendineous xanthomatosis, a genetic disorder Charybdotoxin, a toxin found in scorpion venom Chemotherapy, ...
... xanthomatosis MeSH C17.800.849.929.950 --- wolman disease MeSH C17.800.849.929.975 --- xanthomatosis, cerebrotendinous MeSH ...
Cerebrotendinous xanthomatosis Citrullinemia Congenital erythropoietic porphyria (Gunther's disease) Diabetic bulla (bullosis ... Niemann-Pick disease Nodular amyloidosis Nodular xanthoma Normolipoproteinemic xanthomatosis Obstructive liver disease ( ...
... 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' ...
... 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 ...