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

• Main Authors: Rose Maase (Author), Victor Skrinska (Author), Noura Younes (Author), Lubna Hassan (Author), Rola Mitri (Author), Dietrich Matern (Author), Piero Rinaldo (Author), Coleman Turgeon (Author)
• Format: Book
• Published: MDPI AG, 2017-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...