Nogueira, C., Meschini, M. C., Nesti, C., Garcia, P., et al. (2015). A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic Aciduria. Journal of Child Neurology, 30(2), 228 - 232.

Ferreira, M., Torraco, A., Rizza, T., Fattori, F., et al. (2011). Progressive cavitating leukoencephalopathy associated with respiratory chain complex i deficiency and a novel mutation in NDUFS1. Neurogenetics, 12(1), 9 - 17.

Quental, S., Macedo-Ribeiro, S., Matos, R., Vilarinho, L., et al. (2008). Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community. Molecular Genetics and Metabolism, 94(2), 148 - 156.