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

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Sofou, Kalliopi ^a   De Coo, Irenaeus F M ^b   Isohanni, Pirjo ^c   Ostergaard, Elsebet ^d   Naess, Karin ^e   De Meirleir, Linda ^f   Tzoulis, Charalampos ^g,h   Uusimaa, Johanna ^i,j   De Angst, Isabell B ^b   Lönnqvist, Tuula ^c   Pihko, Helena ^c   Mankinen, Katariina ^k   Bindoff, Laurence A ^g,h   Tulinius, Már ^a   Darin, Niklas ^a  

^a QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF HELSINKI   (Finland)

^d Rigshospitalet   (Denmark)

^e KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^g HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^h UNIVERSITY OF BERGEN   (Norway)

ⁱ UNIVERSITY OF OULU   (Finland)

^j OULU UNIVERSITY HOSPITAL   (Finland)

^k Lansi Pohja Central Hospital   (Finland)

more..

Author keywords

Diagnostic criteria; Leigh syndrome; Natural history; Prognosis; Relapse; Survival

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; BABINSKI REFLEX; BRADYPHRENIA; BRAIN DAMAGE; BRAIN STEM; CHILD; CHOREOATHETOSIS; CLINICAL FEATURE; COHORT ANALYSIS; CONGESTIVE CARDIOMYOPATHY; DISEASE COURSE; DISEASE EXACERBATION; DISEASE SEVERITY; DYSARTHRIA; DYSKINESIA; DYSTONIA; EUROPE; FAILURE TO THRIVE; FATIGUE; FEEDING DIFFICULTY; FEMALE; FOCAL EPILEPSY; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GENOTYPE; HEARING IMPAIRMENT; HEART ARRHYTHMIA; HEMIPARESIS; HOSPITALIZATION; HUMAN; HYPERREFLEXIA; HYPERTROPHIC CARDIOMYOPATHY; HYPOKINESIA; INTENSIVE CARE; KIDNEY DYSFUNCTION; LEIGH DISEASE; LIVER DYSFUNCTION; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MENTAL DEFICIENCY; MICROCEPHALY; MULTICENTER STUDY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOCLONUS; MYOCLONUS SEIZURE; NEUROIMAGING; NYSTAGMUS; ONSET AGE; OPHTHALMOPLEGIA; OPTIC NERVE ATROPHY; PERIPHERAL NEUROPATHY; PHENOTYPE; PROGNOSIS; PTOSIS; RELAPSE; RESPIRATORY FAILURE; RETROSPECTIVE STUDY; SEIZURE; SPASTICITY; STRABISMUS; SURVIVAL PREDICTION; TONIC CLONIC SEIZURE; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; LEIGH DISEASE; MALE; PROGNOSIS; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 84899557764     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-9-52     Document Type: Article

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