MOLDOVANU, F.; CALIN, R. B.; NANU, M. I.; OTELEA, M. R. Late diagnosis of phenylketonuria with p.L48S/p.R408W genotype and late positive response to tetrahydrobiopterin – case presentation and literature review. Journal of Pediatric and Neonatal Individualized Medicine (JPNIM), Quartu Sant’Elena (CA, Italy), v. 9, n. 1, p. e090117, 2020. DOI: 10.7363/090117. Disponível em: https://jpnim.com/index.php/jpnim/article/view/090117. Acesso em: 3 jul. 2022.