المؤلفون: Almannai M; Department of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Aldehaimi A; Department of Pathology, King Fahad Medical City, Riyadh, Saudi Arabia., Peake RWA; Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA., Almontashiri NAM; The Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.

المصدر: Clinical chemistry [Clin Chem] 2021 Jan 08; Vol. 67 (1), pp. 327-330.

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

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

مواضيع طبية MeSH: Acidosis, Lactic/*etiology , Arrhythmias, Cardiac/*etiology , Hyperammonemia/*etiology , Lipid Metabolism, Inborn Errors/*diagnosis, Acidosis, Lactic/blood ; Acidosis, Lactic/diagnosis ; Arrhythmias, Cardiac/blood ; Arrhythmias, Cardiac/diagnosis ; Carnitine/analogs & derivatives ; Carnitine/blood ; Female ; Humans ; Hyperammonemia/blood ; Hyperammonemia/diagnosis ; Infant, Newborn ; Lipid Metabolism, Inborn Errors/blood ; Lipid Metabolism, Inborn Errors/complications ; Lipid Metabolism, Inborn Errors/genetics ; Membrane Transport Proteins/genetics ; Mutation