Associated Papers
Development and validation of machine-learning models of diet management for hyperphenylalaninemia: a multicenter retrospective study.
Su Y et al.
Bmc Medicine, 2024
39256839 (PubMed )
Supplement: 12916_2024_3602_MOESM1_ESM.xlsx › Table_S3
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.
Kuznetcova I et al.
Metabolic Brain Disease, 2019
The molecular epidemiology of hyperphenylalaninemia in Uygur population: incidence from newborn screening and mutational spectra.
Su Y et al.
Annals of Translational Medicine, 2019
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