Index | PMID | Date | Reference |
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1 | 22231385 | 2012 | Honzik, T., Tesarova, M., Magner, M., Mayr, J., Jesina, P., Vesela, K., Wenchich, L., Szentivanyi, K., Hansikova, H., Sperl, W., Zeman, J. (2012) Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis Journal of Inherited Metabolic Disease 35 (5): 749-759 . |
2 | 30763462 | 2019 | Ganetzky, R. D., Stendel, C., McCormick, E. M., Zolkipli-Cunningham, Z., Goldstein, A. C., Klopstock, T., Falk, M. J. (2019) MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases Human Mutation . 40 (5): 499-515 . |