التفاصيل البيبلوغرافية
| العنوان: |
A multicenter study on Leigh syndrome: disease course and predictors of survival. |
| المؤلفون: |
Sofou, Kalliopi, De Coo, Irenaeus F M, Isohanni, Pirjo, Ostergaard, Elsebet, Naess, Karin, De Meirleir, Linda, Tzoulis, Charalampos, Uusimaa, Johanna, De Angst, Isabell B, Lönnqvist, Tuula, Pihko, Helena, Mankinen, Katariina, Bindoff, Laurence A, Tulinius, Mar, 1953, Darin, Niklas, 1964 |
| المصدر: |
Orphanet journal of rare diseases. 9(1) |
| مصطلحات موضوعية: |
Pediatrics, Pediatrik |
| الوصف: |
Leigh syndrome is a progressive neurodegenerative disorder, associated with primary or secondary dysfunction of the mitochondrial oxidative phosphorylation. Despite the fact that Leigh syndrome is the most common phenotype of mitochondrial disorders in children, longitudinal natural history data is missing. This study was undertaken to assess the phenotypic and genotypic spectrum of patients with Leigh syndrome, characterise the clinical course and identify predictors of survival in a large cohort of patients. |
| وصف الملف: |
electronic |
| URL الوصول: |
https://gup.ub.gu.se/publication/197632 |
| قاعدة البيانات: |
SwePub |