Article
Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
Prenatal diagnosis - 1 May 2009
Al-Dirbashi Osama Y, Kurdi Wesam, Imtiaz Faiqa, Ahmad Asmahan M, Al-Sayed Moeenaldeen, Tulbah Maha, Al-Nemer Maha, Rashed Mohamed S
Abstract excerpt
OBJECTIVE: Prenatal diagnosis of Canavan disease by measuring N-acetylaspartic acid (NAA) in amniotic fluid is reliable and preferred over aspartoacylase enzyme assay especially in populations with unknown mutations. Typically based on GC-MS, existing methods are time-consuming and laborious. We developed a novel LC-MS/MS method for determination of NAA in amniotic fluid with minimal sample preparation. METHOD:...
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