A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.

Vaz, Frédéric M

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. [electronic resource] - Journal of lipid research 05 2017 - 1002-1007 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1539-7262

10.1194/jlr.P075051 doi


Adolescent
Bile Acids and Salts--metabolism
Child
Child, Preschool
Cholestasis--complications
Dried Blood Spot Testing--methods
Female
Glucuronides--metabolism
Humans
Infant, Newborn
Male
Neonatal Screening--methods
Xanthomatosis, Cerebrotendinous--blood