A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

Homocystinuria (HCU) due to cystathionine-β-synthase deficiency is generally regarded as a rare disease, but within the Qatari population has an incidence of 1 in 1800 live births. Most newborn screening methods for HCU using dried blood spots (DBS) rely on the detection of an elevated methionine le...

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Bibliographic Details
Main Authors: Rose Maase, Victor Skrinska, Noura Younes, Lubna Hassan, Rola Mitri, Dietrich Matern, Piero Rinaldo, Coleman Turgeon
Format: Article
Language:English
Published: MDPI AG 2017-12-01
Series:International Journal of Neonatal Screening
Subjects:
Online Access:https://www.mdpi.com/2409-515X/3/4/32