A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns

A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns

Cerebrotendinous xanthomatosis (CTX) is a rare, difficult-to-diagnose genetic disorder of bile acid (BA) synthesis that can cause progressive neurological damage and premature death. Detection of CTX in the newborn period would be beneficial because an effective oral therapy for CTX is available to...

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Bibliographic Details
Main Authors: Andrea E. DeBarber, Jenny Luo, Michal Star-Weinstock, Subhasish Purkayastha, Michael T. Geraghty, John (Pei-Wen) Chiang, Louise S. Merkens, Anuradha S. Pappu, Robert D. Steiner
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Journal of Lipid Research
Subjects:
leukodystrophy
CYP27A1
bile acid
ketosterol
newborn screening
LC-ESI-MS/MS
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520317508

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http://www.sciencedirect.com/science/article/pii/S0022227520317508

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