| Index | PMID | Date | Reference |
|---|---|---|---|
| 1 | 29480377 | 2018 | Finsterer, J., Zarrouk-Mahjoub, S. (2018) Phenotypic manifestations of the m.8969G>A variant Neurogenetics . 19 (2): 131-132 . |
| 2 | 29307858 | 2019 | Larson, A. A., Balasubramaniam, S., Christodoulou, J., Burrage, L. C., Marom, R., Graham, B. H., Diaz, G. A., Glamuzina, E., Hauser, N., Heese, B., Horvath, G., Mattman, A., van Karnebeek, C., Lane Rutledge, S., Williamson, A., Estrella, L., Van Hove, J. K. L., Weisfeld-Adams, J. D. (2019) Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6 Mitochondrion . 44 (): 58-64 . |