1.
Moldovanu F, Calin RB, Nanu MI, Otelea MR. 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 [Internet]. 2020Jan.23 [cited 2024Mar.28];9(1):e090117. Available from: https://jpnim.com/index.php/jpnim/article/view/090117