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pro vyhledávání: '"Roham Sarmadian MD"'
Autor:
Hamed Ghoshouni MD, Roham Sarmadian MD, Rana Irilouzadian MD, Habibe Nejad Biglari MD, Abolfazl Gilani MD
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 11 (2023)
Cerebrotendinous xanthomatosis ( CTX ) is a rare hereditary disease described by a mutation in the CYP27A1 gene , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, c
Externí odkaz:
https://doaj.org/article/c821ffe7fc8249b59485a683f15ef5c8
