Customize your search results with filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 03/06/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 201 publications
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
Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients.
Journal: European journal of medical genetics
Published: May 10, 2021
Inborn errors of immunity associated with characteristic phenotypes.
Journal: Jornal de pediatria
Published: October 09, 2020
Last Updated: 03/06/2025