The Genetic Landscape and Epidemiology of Phenylketonuria - Hillert, Alicia; Anikster, Yair; Belanger-Quintana, Amaya; Burlina, Alberto; Burton, Barbara K.; Carducci, Carla; Chiesa, Ana E.; Christodoulou, John; Đorđević, Maja; Desviat, Lourdes R.; Eliyahu, Aviva; Evers, Roeland A.F.; et al. (American journal of human genetics, 2020)
Keywords: Alleles; BH4; BH4, PAH deficiency, PKU, hyperphenylalaninemia, phenylalanine, tetrahydrobiopterin; Biopterins; Biopterins - analogs & derivatives; Biopterins - genetics; DIAGNOSIS; Europe; Gene Frequency; Gene Frequency - genetics; Genetic Association Studies; Genetic Association Studies - methods; Genetic Predisposition to Disease; Genetic Predisposition to Disease - genetics; Genotype; GENOTYPE-PHENOTYPE CORRELATIONS; Homozygote; https://purl.org/becyt/ford/3; https://purl.org/becyt/ford/3.3; Humans; HYPERPHENYLALANINEMIA; MOLECULAR CHARACTERIZATION; Mutation; Mutation - genetics; MUTATIONS; ORIGINS; PAH DEFICIENCY; PAH GENE; PATIENT; Phenotype; Phenylalanine; Phenylalanine - blood; Phenylalanine Hydroxylase; Phenylalanine Hydroxylase - genetics; PHENYLALANINE-HYDROXYLASE DEFICIENCY; Phenylketonurias; Phenylketonurias - blood; Phenylketonurias - epidemiology; Phenylketonurias - genetics; PKU; STATE; TETRAHYDROBIOPTERIN; Europe; tetrahydrobiopterin; PKU; phenylalanine; hyperphenylalaninemia; PAH deficiency; BH4