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MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab, Ayman W; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J; Afqi, Manal; Saleh, Mohammed A M; Faqeih, Eissa A; Alzaidan, Hamad I; Alshenqiti, Abduljabbar; Flore, Leigh Anne; Hertecant, Jozef; Sacharow, Stephanie; Barbouth, Deborah S; Murayama, Kei; Shah, Amit A; Lin, Henry C; Wong, Lee-Jun C.
Afiliação
  • El-Hattab AW; Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates.
  • Wang J; Medical Scientist Training Program and Program in Developmental Biology, Baylor College of Medicine, Houston, Texas.
  • Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Almannai M; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.
  • Staufner C; Division of Neuropediatrics and Metabolic Medicine, Department of General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.
  • Alfadhel M; King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
  • Gambello MJ; Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
  • Prasun P; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
  • Raza S; Department of Pediatrics, St John Hospital and Medical Center and Wayne State University School of Medicine, Detroit, Michigan.
  • Lyons HJ; Department of Pediatrics, St John Hospital and Medical Center and Wayne State University School of Medicine, Detroit, Michigan.
  • Afqi M; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.
  • Saleh MAM; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.
  • Faqeih EA; Section of Medical Genetics, King Fahad Medical City, Children's Specialist Hospital, Riyadh, Saudi Arabia.
  • Alzaidan HI; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Alshenqiti A; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Flore LA; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan and Wayne State University, Detroit, Michigan.
  • Hertecant J; Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates.
  • Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.
  • Barbouth DS; Division of Clinical and Translational Genetics, Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, Miami, Florida.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Shah AA; Division of Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Lin HC; Division of Gastroenterology, Hepatology, and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Wong LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Hum Mutat ; 39(4): 461-470, 2018 04.
Article em En | MEDLINE | ID: mdl-29282788
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Doenças do Sistema Nervoso Periférico / Transtornos Heredodegenerativos do Sistema Nervoso / Doenças Mitocondriais / Proteínas Mitocondriais / Hepatopatias / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Emirados Árabes Unidos País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Doenças do Sistema Nervoso Periférico / Transtornos Heredodegenerativos do Sistema Nervoso / Doenças Mitocondriais / Proteínas Mitocondriais / Hepatopatias / Proteínas de Membrana Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Emirados Árabes Unidos País de publicação: Estados Unidos