title: Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.
authors.forename: Giancarlo
authors.initials: G
authors.lastname: la Marca
authors.forename: Sabrina
authors.initials: S
authors.lastname: Malvagia
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Pasquini
authors.forename: Maria Alice
authors.initials: MA
authors.lastname: Donati
authors.forename: Serena
authors.initials: S
authors.lastname: Gasperini
authors.forename: Elena
authors.initials: E
authors.lastname: Procopio
authors.forename: Enrico
authors.initials: E
authors.lastname: Zammarchi
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D006909:Hydroxyproline / Q000097:blood*; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors; D015997:Neonatal Screening / Q000379:methods*; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000172:deficiency*; D021241:Spectrometry, Mass, Electrospray Ionization / Q000379:methods*
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; C034575:hydroxyproline oxidase; D006909:Hydroxyproline