-
Cerebrotendinous xanthomatosis, also
called cerebral cholesterosis, is an
autosomal recessive form of xanthomatosis. It
falls within a
group of genetic...
- in the bile acid
biosynthetic enzyme sterol 27-hydroxylase
underlie cerebrotendinous xanthomatosis". The
Journal of
Biological Chemistry. 266 (12): 7779–83...
-
metabolism are sitosterolemia, Wolman's disease, Refsum's disease, and
cerebrotendinous xanthomatosis. The
types of
lipids involved in
lipid metabolism include:...
-
urolithiasis Xanthine oxydase deficiency Xanthinuria Xanthomatosis cerebrotendinous Xerocytosis,
hereditary Xeroderma Xeroderma pigmentosum Xeroderma pigmentosum...
-
single enzyme defects:
sterol 27-hydroxylase
deficiency (presenting as
cerebrotendinous xanthomatosis, CTX); 2- (or alpha-) methylacyl-CoA
racemase (AMACR)...
- 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...
-
subcortical infarcts and
leukoencephalopathy syndrome (CADASIL syndrome)
Cerebrotendinous xanthomatosis Citrullinemia Congenital erythropoietic porphyria (Gunther's...
-
Berginer VM,
Salen G,
Shefer S (December 1984). "Long-term
treatment of
cerebrotendinous xanthomatosis with
chenodeoxycholic acid". N. Engl. J. Med. 311 (26):...
-
Moghadasian MH,
Salen G,
Frohlich JJ,
Scudamore CH (April 2002). "
Cerebrotendinous xanthomatosis: a rare
disease with
diverse manifestations". Arch. Neurol...
