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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal Me; Brodtkorb, Eylert; Ostergaard, Elsebet; de Coo, I F M; Pias-Peleteiro, Leticia; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence A.
Afiliación
  • Hikmat O; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.
  • Naess K; Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.
  • Engvall M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Klingenberg C; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
  • Rasmussen M; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Tallaksen CM; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Brodtkorb E; Department of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromso, Norway.
  • Ostergaard E; Paediatric Research Group, Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromso, Norway.
  • de Coo IFM; Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway.
  • Pias-Peleteiro L; Unit for Congenital and Hereditary Neuromuscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway.
  • Isohanni P; Department of Neurology, Oslo University Hospital, Oslo, Norway.
  • Uusimaa J; Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Darin N; Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.
  • Rahman S; Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, Trondheim, Norway.
  • Bindoff LA; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
J Inherit Metab Dis ; 43(4): 726-736, 2020 07.
Article en En | MEDLINE | ID: mdl-32391929
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Enfermedades Mitocondriales / ADN Polimerasa gamma Tipo de estudio: Etiology_studies / Observational_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: J Inherit Metab Dis Año: 2020 Tipo del documento: Article País de afiliación: Noruega
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Enfermedades Mitocondriales / ADN Polimerasa gamma Tipo de estudio: Etiology_studies / Observational_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Child, preschool / Female / Humans / Infant / Male País/Región como asunto: Europa Idioma: En Revista: J Inherit Metab Dis Año: 2020 Tipo del documento: Article País de afiliación: Noruega