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A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Wintjes, Liesbeth T M; Kava, Maina; van den Brandt, Frans A; van den Brand, Mariël A M; Lapina, Oksana; Bliksrud, Yngve T; Kulseth, Mari A; Amundsen, Silja S; Selberg, Terje R; Ybema-Antoine, Marion; Tutakhel, Omar A Z; Greed, Lawrence; Thorburn, David R; Tangeraas, Trine; Balasubramaniam, Shanti; Rodenburg, Richard J T.
Afiliação
  • Wintjes LTM; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
  • Kava M; Department of Neurology, Perth Children's Hospital, Perth, Western Australia, Australia.
  • van den Brandt FA; School of Pediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia.
  • van den Brand MAM; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
  • Lapina O; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
  • Bliksrud YT; Department for Radiology and Nuclear Medicine, Oslo University Hospital, Oslo, Norway.
  • Kulseth MA; Norwegian National Unit for Diagnostics of Congenital Metabolic Disorders, Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.
  • Amundsen SS; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Selberg TR; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
  • Ybema-Antoine M; Department of Pediatrics, Ostfold Hospital Trust, Kalnes, Norway.
  • Tutakhel OAZ; Department of Pediatrics, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
  • Greed L; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Centre for Mitochondrial Medicine, Radboudumc, Nijmegen, The Netherlands.
  • Thorburn DR; Department of Clinical Biochemistry, PathWest, Perth, Western Australia, Australia.
  • Tangeraas T; Murdoch Children's Research Institute and Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
  • Balasubramaniam S; Department of Pediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Rodenburg RJT; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
Hum Mutat ; 42(2): 135-141, 2021 02.
Article em En | MEDLINE | ID: mdl-33169484
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acidose Láctica / Encefalopatias / Deficiência de Citocromo-c Oxidase / Proteínas Mitocondriais / Hepatopatias / Proteínas de Membrana / Cardiomiopatias Tipo de estudo: Etiology_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Acidose Láctica / Encefalopatias / Deficiência de Citocromo-c Oxidase / Proteínas Mitocondriais / Hepatopatias / Proteínas de Membrana / Cardiomiopatias Tipo de estudo: Etiology_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article