Publication | Open Access

A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype

Metabolic SyndromeMendelian DisorderBiochemistryGenetic DisorderMedicineGeneticsGenetic EpidemiologyEuropean Multicenter StudyDisease Gene IdentificationMetabolic PhenotypeMetabolomicsMetabolismPhenylalanine Hydroxylase DeficiencyVariant Interpretation