F. Moldovanu, R. B. Calin, M. I. Nanu, and M. R. Otelea, “Late diagnosis of phenylketonuria with p.L48S/p.R408W genotype and late positive response to tetrahydrobiopterin – case presentation and literature review”, J Pediatr Neonat Individual Med, vol. 9, no. 1, p. e090117, Jan. 2020.