Purine nucleoside phosphorylase (PNP) deficiency has been recently introduced in the newborn screening program in Tuscany. In order to improve the PNP screening efficiency, we developed a 2nd tier test to quantify PNP primary markers deoxyguanosine (dGuo) and deoxyinosine (dIno).
Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry / la Marca, Giancarlo; Giocaliere, Elisa; Malvagia, Sabrina; Villanelli, Fabio; Funghini, Silvia; Ombrone, Daniela; Bona, Maria Della; Forni, Giulia; Canessa, Clementina; Ricci, Silvia; Romano, Francesca; Guerrini, Renzo; Resti, Massimo; Azzari, Chiara. - In: CLINICAL CHEMISTRY AND LABORATORY MEDICINE. - ISSN 1437-4331. - STAMPA. - 54:(2016), pp. 627-632. [10.1515/cclm-2015-0436]
Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry
LA MARCA, GIANCARLO;Ricci, Silvia;GUERRINI, RENZO;AZZARI, CHIARA
2016
Abstract
Purine nucleoside phosphorylase (PNP) deficiency has been recently introduced in the newborn screening program in Tuscany. In order to improve the PNP screening efficiency, we developed a 2nd tier test to quantify PNP primary markers deoxyguanosine (dGuo) and deoxyinosine (dIno).
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