title: Genotype-phenotype correlation in dihydropteridine reductase deficiency.
authors.affiliation: Department of Pediatric Sciences, University of Torino, Italy.
authors.forename: L
authors.initials: L
authors.lastname: de Sanctis
authors.forename: C
authors.initials: C
authors.lastname: Alliaudi
authors.forename: M
authors.initials: M
authors.lastname: Spada
authors.forename: R
authors.initials: R
authors.lastname: Farrugia
authors.forename: R
authors.initials: R
authors.lastname: Cerone
authors.forename: G
authors.initials: G
authors.lastname: Biasucci
authors.forename: C
authors.initials: C
authors.lastname: Meli
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: T
authors.initials: T
authors.lastname: Coskun
authors.forename: N
authors.initials: N
authors.lastname: Blau
authors.forename: A
authors.initials: A
authors.lastname: Ponzone
authors.forename: I
authors.initials: I
authors.lastname: Dianzani
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology / Q000503:physiopathology; D004093:Dihydropteridine Reductase / Q000235:genetics; D005838:Genotype; D006801:Humans; D010641:Phenotype; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias
chemical_list: D010649:Phenylalanine; D004093:Dihydropteridine Reductase