- 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...
-
cerebrotendinous xanthomatosis. In
March 2025,
chenodeoxycholic acid (Ctexli) was
approved in the
United States for the
treatment of
cerebrotendinous xanthomatosis in...
- disease.
Mutations in CYP27A1 are ****ociated 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 ...
- sitosterolemia, Wolman's disease, Refsum's disease, and
cerebrotendinous xanthomatosis. The
types of
lipids involved in
lipid metabolism include: Membrane...
- 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...
