Hyperhydroxyprolinaemia: a new case diagnosed during neonatal screening with tandem mass spectrometry.
la Marca
Giancarlo
G
Malvagia
Sabrina
S
Pasquini
Elisabetta
E
Donati
Maria Alice
MA
Gasperini
Serena
S
Procopio
Elena
E
Zammarchi
Enrico
E
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*
D000587:Oxidoreductases Acting on CH-NH Group Donors; C034575:hydroxyproline oxidase; D006909:Hydroxyproline