Associated Papers
Spectrum of PAH gene variants in Jordanian patients with phenylalanine hydroxylase deficiency.
Fathallah R et al.
Biomedical Reports, 2025
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T et al.
International Journal of Neonatal Screening, 2025
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.
Alghamdi MA et al.
Jimd Reports, 2023
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Carducci C et al.
Jimd Reports, 2020
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M et al.
Pediatric Neurology, 2019
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
Ben-Rebeh I et al.
Genetic Testing and Molecular Biomarkers, 2012
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