المؤلفون: Al-Dirbashi OY; National Laboratory for Newborn Screening, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia. dirbashi@kfshrc.edu.sa, Kurdi W, Imtiaz F, Ahmad AM, Al-Sayed M, Tulbah M, Al-Nemer M, Rashed MS

المصدر: Prenatal diagnosis [Prenat Diagn] 2009 May; Vol. 29 (5), pp. 477-80.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Validation Study

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Amniotic Fluid/*chemistry , Aspartic Acid/*analogs & derivatives , Canavan Disease/*diagnosis , Prenatal Diagnosis/*methods , Tandem Mass Spectrometry/*methods, Amidohydrolases/genetics ; Aspartic Acid/analysis ; Canavan Disease/etiology ; Canavan Disease/genetics ; Canavan Disease/pathology ; Case-Control Studies ; Chromatography, Liquid/methods ; Female ; Gestational Age ; Humans ; Mutation/physiology ; Pregnancy ; Reproducibility of Results ; Risk Factors

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