Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis
2017
ABSTRACTObjectives:Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway. CTX usually presents as neurologic disease in adults or older children. The rare reports of CTX manifest as neonatal c
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