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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

  • Omar Hikmat
  • , Karin Naess
  • , Martin Engvall
  • , Claus Klingenberg
  • , Magnhild Rasmussen
  • , Chantal M. E. Tallaksen
  • , Eylert Brodtkorb
  • , Elsebet Ostergaard
  • , I. F. M. de Coo
  • , Leticia Pias-Peleteiro
  • , Pirjo Isohanni
  • , Johanna Uusimaa
  • , Niklas Darin
  • , Shamima Rahman
  • , Laurence A. Bindoff

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalJournal of Inherited Metabolic Disease
Volume43
Issue number4
Pages (from-to)726-736
Number of pages11
ISSN0141-8955
DOIs
Publication statusPublished - Jul 2020
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Alpers syndrome
  • epilepsy
  • mitochondrial disease
  • POLG
  • stroke-like episodes
  • MUTATIONS
  • SPECTRUM
  • PARKINSONISM
  • 3112 Neurosciences
  • 1184 Genetics, developmental biology, physiology
  • 3121 General medicine, internal medicine and other clinical medicine

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