1.
Int J Neonatal Screen
; 7(4)2021 Sep 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34698070
RESUMO
Purine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe combined immunodeficiency. To date, PNP deficiency has been detected in newborn screening only through the use of liquid chromatography tandem mass spectrometry. We report the first case in which PNP deficiency was detected by TREC analysis.