Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment

Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment

Cerebrotendinous xanthomatosis (CTX) is a progressive metabolic leukodystrophy. Early identification and treatment from birth onward effectively provides a functional cure, but diagnosis is often delayed. We conducted a pilot study using a two-tier test for CTX to screen archived newborn dried blood...

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Bibliographic Details
Main Authors: Andrea E. DeBarber, Limor Kalfon, Ayalla Fedida, Vered Fleisher Sheffer, Shani Ben Haroush, Natalia Chasnyk, Efrat Shuster Biton, Hanna Mandel, Krystal Jeffries, Eric S. Shinwell, Tzipora C. Falik-Zaccai
Format: Article
Language:English
Published: Elsevier 2018-11-01
Series:Journal of Lipid Research
Subjects:
inborn errors of metabolism
storage diseases
bile acids and salts
diagnostic tools
mass spectrometry
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227520309214

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http://www.sciencedirect.com/science/article/pii/S0022227520309214

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