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Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure
Authors:Abdulrahman Al-Hussaini  MD  Eissa Faqeih  Ayman W. El-Hattab  Majid AlfadhelAli Asery  MD  Badr Alsaleem  Eman Bakhsh  Ashraf Ali  Ali Alasmari  Khurram Lone  Ahmed Nahari  Wafaa Eyaid  Mohammed Al Balwi  Kate Craig  Anna Butterworth  Langping He  Robert W. Taylor
Affiliation:1 Division of Pediatric Gastroenterology, The Children''s Hospital, King Fahad Medical City, College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia;2 Division of Medical Genetics, The Children''s Hospital, King Fahad Medical City, College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia;3 Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia;4 Department of Radiology, King Saud bin Abdulaziz University for Health Sciences, King Fahad Medical City, Riyadh, Saudi Arabia;5 Department of Pathology, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia;6 King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia;7 Newcastle Mitochondrial Highly Specialized Services Diagnostic Laboratory, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom
Abstract:
Keywords:ATP, Adenosine triphosphate   DGUOK, Deoxyguanosine kinase   MDS, Mitochondrial DNA depletion syndrome   MRI, Magnetic resonance imaging   mtDNA, Mitochondrial DNA
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