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Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Al-Hussaini, Abdulrahman; Faqeih, Eissa; El-Hattab, Ayman W; Alfadhel, Majid; Asery, Ali; Alsaleem, Badr; Bakhsh, Eman; Ali, Ashraf; Alasmari, Ali; Lone, Khurram; Nahari, Ahmed; Eyaid, Wafaa; Al Balwi, Mohammed; Craig, Kate; Butterworth, Anna; He, Langping; Taylor, Robert W.
Afiliação
  • Al-Hussaini A; 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. Electronic address: aa_alhussaini@yahoo.com.
  • Faqeih E; 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.
  • El-Hattab AW; 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.
  • Alfadhel M; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Asery A; 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.
  • Alsaleem B; 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.
  • Bakhsh E; Department of Radiology, King Saud bin Abdulaziz University for Health Sciences, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Ali A; Department of Pathology, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Alasmari A; 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.
  • Lone K; 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.
  • Nahari A; 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.
  • Eyaid W; Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Al Balwi M; Department of Pathology, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
  • Craig K; Newcastle Mitochondrial Highly Specialized Services Diagnostic Laboratory, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Butterworth A; Newcastle Mitochondrial Highly Specialized Services Diagnostic Laboratory, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • He L; Newcastle Mitochondrial Highly Specialized Services Diagnostic Laboratory, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
  • Taylor RW; Newcastle Mitochondrial Highly Specialized Services Diagnostic Laboratory, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom.
J Pediatr ; 164(3): 553-9.e1-2, 2014 Mar.
Article em En | MEDLINE | ID: mdl-24321534
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colestase / Falência Hepática / Fosfotransferases (Aceptor do Grupo Álcool) / Proteínas Mitocondriais / Proteínas de Membrana / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colestase / Falência Hepática / Fosfotransferases (Aceptor do Grupo Álcool) / Proteínas Mitocondriais / Proteínas de Membrana / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Revista: J Pediatr Ano de publicação: 2014 Tipo de documento: Article