Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots
作者： Giancarlo La Marca , Clementina Canessa , Elisa Giocaliere , Francesca Romano , Sabrina Malvagia
DOI: 10.1016/J.JACI.2014.01.040
关键词: Newborn screening 、 Internal medicine 、 Dried blood spot 、 Primary immunodeficiency 、 Medicine 、 Adenosine deaminase 、 Gastroenterology 、 Purine nucleoside phosphorylase 、 Inosine 、 Immunodeficiency 、 T-cell receptor excision circles 、 Virology
摘要: … Our results support the inclusion of PNP-CID in routine newborn screening by using TMS. Detection of PNP metabolites by using TMS could be performed on the same DBSs collected …
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