title: Facilitation of hyperphenylalaninaemia phenotype assessment by genotype analysis.
authors.forename: D S
authors.initials: DS
authors.lastname: Konecki
authors.forename: S
authors.initials: S
authors.lastname: Schweitzer-Krantz
authors.forename: D
authors.initials: D
authors.lastname: Byrd
authors.forename: F K
authors.initials: FK
authors.lastname: Trefz
authors.forename: U
authors.initials: U
authors.lastname: Lichter-Konecki
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D010649:Phenylalanine / Q000097:blood*; D010661:Phenylketonurias / Q000235:genetics*
chemical_list: D010649:Phenylalanine