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

المؤلفون: Almannai M; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh 11525, Saudi Arabia. malmannai@kfmc.med.sa., Alfadhel M; Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh 11426, Saudi Arabia. dralfadhelm@gmail.com.; King Abdullah International Medical Research Center (KAIMRC), Riyadh 11426, Saudi Arabia. dralfadhelm@gmail.com.; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh 11426, Saudi Arabia. dralfadhelm@gmail.com., El-Hattab AW; Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah 27272, UAE. elhattabaw@yahoo.com.

المصدر: Molecules (Basel, Switzerland) [Molecules] 2019 Sep 06; Vol. 24 (18). Date of Electronic Publication: 2019 Sep 06.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 100964009 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-3049 (Electronic) Linking ISSN: 14203049 NLM ISO Abbreviation: Molecules Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathies/*genetics , Carnitine/*deficiency , Carnitine/*genetics , Hyperammonemia/*genetics , Metabolism, Inborn Errors/*genetics , Mitochondria/*enzymology , Muscular Diseases/*genetics, Aldehyde Oxidoreductases/genetics ; Cardiomyopathies/metabolism ; Carnitine/biosynthesis ; Carnitine/metabolism ; Carnitine Acyltransferases/genetics ; Carnitine O-Palmitoyltransferase/genetics ; Humans ; Hyperammonemia/metabolism ; Mitochondria/genetics ; Mixed Function Oxygenases/genetics ; Muscular Diseases/metabolism ; Oxidation-Reduction ; Solute Carrier Family 22 Member 5/genetics ; gamma-Butyrobetaine Dioxygenase/genetics

SCR Disease Name: Systemic carnitine deficiency

المؤلفون: Alfadhel, Majid^Aff1, Nashabat, Marwan, Saleh, Mohammed, Elamin, Mohammed, Alfares, Ahmed, Al Othaim, Ali, Umair, Muhammad, Ahmed, Hind, Ababneh, Faroug, Al Mutairi, Fuad, Eyaid, Wafaa, Alswaid, Abdulrahman, Alohali, Lina, Faqeih, Eissa, Almannai, Mohammed, Aljeraisy, Majed, Albdah, Bayan, Hussein, Mohamed A., Rahbeeni, Zuhair, Alasmari, Ali

المصدر: Orphanet Journal of Rare Diseases. 16(1)