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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. J Pediatr Neonat Individual Med 2020, 9, e090117.