Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

• প্রধান লেখক: Andrea Martín-Nalda (লেখক), Jacques G. Rivière (লেখক), Mireia Català-Besa (লেখক), Marina García-Prat (লেখক), Alba Parra-Martínez (লেখক), Mónica Martínez-Gallo (লেখক), Roger Colobran (লেখক), Ana Argudo-Ramírez (লেখক), Jose Luis Marín-Soria (লেখক), Judit García-Villoria (লেখক), Laura Alonso (লেখক), Jose Antonio Arranz-Amo (লেখক), Giancarlo la Marca (লেখক), Pere Soler-Palacín (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: MDPI AG, 2021-09-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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 d...