F. Mohamed Ahmed, M. Abd Allah Eman, E. Moselhim Ahmed, Gamal Radwa, M. Mahmoud Magdy, K. Zaki Osama, Molecular Analysis of 6-pyruvoyltetrahydropterin Synthase Gene in Atypical Phenylketonuric Egyptian Patients, Journal of Biotechnology and Biomedical Science, Volume 2, Issue 3, 2020, Pages 15-30, ISSN 2576-6694, https://doi.org/10.14302/issn.2576-6694.jbbs-20-3450.
(http://oap-journals.infojbbs/article/1406)
Keywords: HPA: hyperphenylalaninemia; PAH: phenylalanine hydroxylase; Phe: phenylalanine; PKU: phenylketonuria; PTPS: 6-pyruvoyl-tetrahydropterin synthase; BH4: tetrahydrobiopterin