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Last Updated: 10/31/2025
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Found 206 publications
The Success of Newborn Screening Beyond War: An International Collaborative Case of Purine Nucleoside Phosphorylase (PNP) Deficiency.
Journal: International journal of neonatal screening
Published: August 04, 2025
Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature.
Journal: Hematology (Amsterdam, Netherlands)
Published: January 08, 2025
Purine Nucleoside Phosphorylase Deficiency: A Case Report of an Extremely Rare Disorder.
Journal: Cureus
Published: December 22, 2024
Expanded Newborn Screening for Inborn Errors of Immunity: The Experience of Tuscany.
Journal: The journal of allergy and clinical immunology. In practice
Published: September 24, 2023
Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.
Journal: Journal of clinical immunology
Published: July 10, 2023
Quantitation of Purine in Urine by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry.
Quantitation of Purine in Urine by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: September 20, 2022
Immunodeficiency and autoimmunity: companions not opposites.
Journal: The Journal of clinical investigation
Published: August 15, 2022
Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations.
Journal: Archives of Iranian medicine
Published: June 25, 2022
Purine nucleoside phosphorylase enables dual metabolic checkpoints that prevent T cell immunodeficiency and TLR7-associated autoimmunity.
Journal: The Journal of clinical investigation
Published: April 07, 2022
Purine nucleoside phosphorylase deficiency induces p53-mediated intrinsic apoptosis in human induced pluripotent stem cell-derived neurons.
Journal: Scientific reports
Published: January 11, 2022
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening.
Journal: International journal of neonatal screening
Published: July 22, 2021
Last Updated: 10/31/2025