Associated Papers
Proteasomal activity and disease outcome in phenylketonuria patients with a structural SLC7A5 variant.
Bik-Multanowski M et al.
Scientific Reports, 2025
Mutation analysis in hyperphenylalaninemia patients from South Italy.
Trunzo R et al.
Clinical Biochemistry, 2013
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)
Corsello G et al.
European Journal of Pediatrics, 1999
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