A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis) is a deposition of yellowish cholesterol-rich material that can appear anywhere in...

Cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis, is a rare inborn bile acid metabolism disorder caused by autosomal-recessive...

to sterol 27 hydroxylase deficiency (presenting as cerebrotendinous xanthomatosis). In the United States, chenodeoxycholic acid is indicated for people...

disease. Mutations in CYP27A1 are associated with cerebrotendineous xanthomatosis, a rare lipid storage disease. Inhibitors of CYP27A1 may be effective...

disorder include Alport's syndrome, Conradi's syndrome, cerebrotendineous xanthomatosis, myotonic dystrophy, and oculocerebrorenal syndrome or Lowe syndrome...

xanthomata can confirm the diagnosis. Sitosterolemia and cerebrotendineous xanthomatosis are two rare conditions that can also present with premature atherosclerosis...

Normolipoproteinemic xanthomatosis is a cutaneous condition characterized by a xanthoma in the presence of normal cholesterol and lipoprotein levels.: 535 ...

and leukoencephalopathy syndrome (CADASIL syndrome) Cerebrotendinous xanthomatosis Citrullinemia Congenital erythropoietic porphyria (Gunther's disease)...

include vitamin E deficiency, abetalipoproteinemia, cerebrotendinous xanthomatosis, Niemann–Pick type C disease, Refsum's disease, glucose transporter...

Evelien; Stelten, Bianca M. L.; Verrips, Aad (2023). "Cerebrotendinous xanthomatosis". Essentials of Cerebellum and Cerebellar Disorders. Cham: Springer...

sitosterolemia, Wolman's disease, Refsum's disease, and cerebrotendinous xanthomatosis. The types of lipids involved in lipid metabolism include: Membrane...

xanthochromia, xanthochromism, xanthogenic, Xanthoidea, xanthoma, xanthomatosis, xanthophobia, xanthophore, xanthophyll, xanthopsia, xanthopterin, xanthosis...

resulting in eruptive xanthomas.: 535  Normolipoproteinemic xanthomatosis Cerebrotendinous xanthomatosis Skin lesion James, William D.; Berger, Timothy G.; et al...

false-negative results on testing. ABCG5 and ABCG8 Genes Cerebrotendinous xanthomatosis James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases...

leukodystrophy (E75.2) Pelizaeus–Merzbacher disease (E75.5) Cerebrotendineous xanthomatosis (G93.49) Leukoencephalopathy with vanishing white matter With many different...

Ceftriaxone, an antibiotic Cefotaxime, an antibiotic Cerebrotendineous xanthomatosis, a genetic disorder Charybdotoxin, a toxin found in scorpion venom Chemotherapy...

disease Neurology Autosomal dominant PRNP 1/24,000 Libya Cerebrotendinous xanthomatosis Medical genetics, endocrinology Autosomal recessive CYP27A1 1/70 Morocco...

conditions include diabetic dermopathy, digital sclerosis, eruptive xanthomatosis, and others. Hepatic encephalopathy is a possible complication of liver...

defects: sterol 27-hydroxylase deficiency (presenting as cerebrotendinous xanthomatosis, CTX); 2- (or alpha-) methylacyl-CoA racemase (AMACR) deficiency; cholesterol...

precursor readily available (such as amino acids or carbohydrates). Xanthomatosis Niemann–Pick disease Metabolic Myopathies "Lipid Storage Diseases Fact...

xanthochromia, xanthochromism, xanthogenic, Xanthoidea, xanthoma, xanthomatosis, xanthophobia, xanthophore, xanthophyll, xanthopsia, xanthopterin, xanthosis...

acid type Xanthic urolithiasis Xanthine oxydase deficiency Xanthinuria Xanthomatosis cerebrotendinous Xerocytosis, hereditary Xeroderma Xeroderma pigmentosum...

(2001). "Diphenylpyraline-responsive parkinsonism in cerebrotendinous xanthomatosis: long-term follow up of three patients". J Neurol Sci. 182 (2): 95–7...

acid which is used to treat about 60 children with cerebrotendineous xanthomatosis in the Netherlands. The company now sells this medicine at €140 per...

"xanthome elastique" but subsequently it was found not to be a form of xanthomatosis. Balzer is also responsible for coining the term "adénomes sébacés"...

Whonamedit? Abramov A, Schorr S, Wolman M (Mar 1956). "Generalized xanthomatosis with calcified adrenals". AMA J Dis Child. 91 (3): 282–6. doi:10.1001/archpedi...

wrist. Xanthoma – A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek ξανθός (xanthós) 'yellow', is a deposition of yellowish...

Cerebrooculofacioskeletal syndrome 4; 610758; ERCC1 Cerebrotendinous xanthomatosis; 213700; CYP27A1 Ceroid lipofuscinosis, neuronal 8; 600143; CLN8 Ceroid...

some of these individuals were found to have positive markers of HBV. Xanthomatosis is a systemic metabolic disorder marked by fatty deposits in the presence...

viral disease, suppurating pulmonary infections, cerebrotendineous xanthomatosis, visceral lesions in rheumatic disorder and rheumatoid arthritis, trichinosis...