Masayuki Takamura

Prevalence and Impact of a Pathogenic CYP27A1 Variant on the Phenotypes Among Patients with Monogenic Heterozygous Familial Hypercholesterolemia.

OBJECTIVE 　Cerebrotendinous xanthomatosis (CTX) is a rare inherited metabolic disorder caused by pathogenic variants of cytochrome P450 family 27 subfamily A member 1 (CYP27A1). It remains unclear whether such variants modify the clinical manifestations of familial hypercholesterolemia (FH) caused by defects in the lo...