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Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry |
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| Authors: | Osama Y Al-Dirbashi Wesam Kurdi Faiqa Imtiaz Asmahan M Ahmad Moeenaldeen Al-Sayed Maha Tulbah Maha Al-Nemer Mohamed S Rashed |
| Institution: | 1. National Laboratory for Newborn Screening, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia;2. Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia;3. Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia;4. Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia;5. National Laboratory for Newborn Screening, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia |
| Abstract: | |
| Keywords: | canavan disease N-acetylaspartic acid amniotic fluid prenatal diagnosis liquid chromatography tandem mass spectrometry |