[HTML][HTML] 5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics
H Levy, D Lamppu, V Anastosoaie, JL Baker… - Molecular Genetics and …, 2020 - Elsevier
Background Phenylketonuria (PKU) is an autosomal recessive disease caused by mutations
in the PAH gene, resulting in deficiency of phenylalanine hydroxylase (PAH), an enzyme
that converts phenylalanine (Phe) to tyrosine (Tyr). The purpose of this study was to capture
real-world data associated with managing PKU under current standard of care and to
characterize a representative population for a planned gene therapy trial. Methods A
retrospective chart review was conducted at two US clinics for individuals 10–40 years old …
in the PAH gene, resulting in deficiency of phenylalanine hydroxylase (PAH), an enzyme
that converts phenylalanine (Phe) to tyrosine (Tyr). The purpose of this study was to capture
real-world data associated with managing PKU under current standard of care and to
characterize a representative population for a planned gene therapy trial. Methods A
retrospective chart review was conducted at two US clinics for individuals 10–40 years old …