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Cerebrotendinous xanthomatosis (CTX), also
called cerebral cholesterosis, is a rare
inborn bile acid
metabolism disorder caused by autosomal-recessive...
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cerebrotendinous xanthomatosis. In
March 2025,
chenodeoxycholic acid (Ctexli) was
approved in the
United States for the
treatment of
cerebrotendinous...
- in the bile acid
biosynthetic enzyme sterol 27-hydroxylase
underlie cerebrotendinous xanthomatosis". The
Journal of
Biological Chemistry. 266 (12): 7779–83...
- Hendriks, Evelien; Stelten,
Bianca M. L.; Verrips, Aad (2023). "
Cerebrotendinous xanthomatosis".
Essentials of
Cerebellum and
Cerebellar Disorders....
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urolithiasis Xanthine oxydase deficiency Xanthinuria Xanthomatosis cerebrotendinous Xerocytosis,
hereditary Xeroderma Xeroderma pigmentosum Xeroderma pigmentosum...
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subcortical infarcts and
leukoencephalopathy syndrome (CADASIL syndrome)
Cerebrotendinous xanthomatosis Citrullinemia Congenital erythropoietic porphyria (Gunther's...
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metabolism are sitosterolemia, Wolman's disease, Refsum's disease, and
cerebrotendinous xanthomatosis. The
types of
lipids involved in
lipid metabolism include:...
- may give false-negative
results on testing. ABCG5 and ABCG8
Genes Cerebrotendinous xanthomatosis James,
William D.; Berger,
Timothy G.; et al. (2006)...
- critical.
Diseases include vitamin E deficiency, abetalipoproteinemia,
cerebrotendinous xanthomatosis, Niemann–Pick type C disease, Refsum's disease, glucose...
- Creutzfeldt–Jakob
disease Neurology Autosomal dominant PRNP 1/24,000
Libya Cerebrotendinous xanthomatosis Medical genetics,
endocrinology Autosomal recessive CYP27A1...
