A multicenter study on Leigh syndrome: disease course and predictors of survival

Kalliopi Sofou, Irenaeus F. M. De Coo, Pirjo Isohanni, Elsebet Ostergaard, Karin Naess, Linda De Meirleir, Charalampos Tzoulis, Johanna Uusimaa, Isabell B. De Angst, Tuula Lonnqvist, Helena Pihko, Katariina Mankinen, Laurence A. Bindoff, Mar Tulinius, Niklas Darin

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number52
JournalOrphanet journal of rare diseases
Volume9
Number of pages16
ISSN1750-1172
DOIs
Publication statusPublished - 15 Apr 2014
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Leigh syndrome
  • Natural history
  • Survival
  • Relapse
  • Prognosis
  • Diagnostic criteria
  • BILATERAL STRIATAL NECROSIS
  • MITOCHONDRIAL DISORDERS
  • CLINICAL-FEATURES
  • DNA ABNORMALITIES
  • MISSENSE MUTATION
  • CASE SERIES
  • FOLLOW-UP
  • DEFICIENCY
  • CHILDHOOD
  • CHILDREN
  • 3123 Gynaecology and paediatrics
  • 3124 Neurology and psychiatry

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