Varga Viktória Evelin; Katkó Mónika; Harangi János; Balogh István; Kapás István; Madar László; Seres Ildikó; Molnár Mária Judit; Paragh György; Kovács G. Gábor; Harangi Mariann
(2014)
Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase ...