Number of the records: 1

xantomatóza cerebrotendinózna

Subject h.	xantomatóza cerebrotendinózna
Subject h.	Xanthomatosis, Cerebrotendinous
Entry terms	van Bogaertov-Schererov-Epsteinov syndróm cholesterinosis cerebrotendinosa xanthomatosis normolipaemica CTX van Bogaertova-Schererova-Epsteinova choroba
English X references	Van Bogaert-Scherer-Epstein Disease
Scope note in English	An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
Links	(8) - ARTICLES
	(1) - MeSH descriptor

subject heading

Number of the records: 1