Hidde H. Huidekoper

December 16, 2022

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

Abstract Background and aims: Cerebrotendinous Xanthomatosis (CTX) is a treatable disorder of bile acid synthesis caused by deficiency of 27-sterol…

June 10, 2020

Toward Newborn Screening of Cerebrotendinous Xanthomatosis: Results of a Biomarker Research Study Using 32,000 Newborn Dried Blood Spots

Abstract Purpose: Cerebrotendinous xanthomatosis (CTX) is a treatable hereditary disorder caused by the deficiency of sterol 27- hydroxylase, which is…