title: A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece.
authors.affiliation: Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
authors.forename: K H
authors.initials: KH
authors.lastname: Schulpis
authors.forename: A
authors.initials: A
authors.lastname: Covanis
authors.forename: M
authors.initials: M
authors.lastname: Loumakou
authors.forename: N
authors.initials: N
authors.lastname: Frantzis
authors.forename: O
authors.initials: O
authors.lastname: Papandreou
authors.forename: A
authors.initials: A
authors.lastname: Divolli
authors.forename: S
authors.initials: S
authors.lastname: Missiou-Tsagaraki
authors.forename: L
authors.initials: L
authors.lastname: Kierat
authors.forename: N
authors.initials: N
authors.lastname: Blau
mesh_terms: D000429:Alcohol Oxidoreductases / Q000172:deficiency*; D005260:Female; D006115:Greece; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D019761:Phosphorus-Oxygen Lyases
chemical_list: D000429:Alcohol Oxidoreductases; D019761:Phosphorus-Oxygen Lyases; C043497:6-pyruvoyltetrahydropterin synthase