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- Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis2012 | 1. lékařská fakulta
- Hyperammonemic crisis in a child with ATP synthase deficiency caused by mtDNA mutation m.8851T>C2015 | 1. lékařská fakulta
- Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients2012 | 1. lékařská fakulta