Disease: Purine nucleoside phosphorylase deficiency
- A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma
- Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients
- Deletion of <em>MTAP</em> Highly Sensitizes Osteosarcoma Cells to Methionine Restriction With Recombinant Methioninase
- Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening
- Evaluating antitumor activity of Escherichia coli purine nucleoside phosphorylase against head and neck patient-derived xenografts
- Expression and localisation of methylthioadenosine phosphorylase (MTAP) in oral squamous cell carcinoma and their significance in epithelial-to-mesenchymal transition
- Fragment-Based Discovery of MRTX1719, a Synthetic Lethal Inhibitor of the PRMT5•MTA Complex for the Treatment of <em>MTAP</em>-Deleted Cancers
- Genomic landscape of metastatic breast cancer (MBC) patients with methylthioadenosine phosphorylase (<em>MTAP</em>) loss
- Homozygous MTAP deletion in primary human glioblastoma is not associated with elevation of methylthioadenosine
- Immunodeficiency and autoimmunity: companions not opposites
- Inborn errors of immunity associated with characteristic phenotypes
- Investigating the Variation of TREC/KREC in Combined Immunodeficiencies
- MTAP deficiency contributes to immune landscape remodelling and tumour evasion
- MTAP Deficiency-Induced Metabolic Reprogramming Creates a Vulnerability to Cotargeting <em>De Novo</em> Purine Synthesis and Glycolysis in Pancreatic Cancer
- MTAP-deficiency could predict better treatment response in advanced lung adenocarcinoma patients initially treated with pemetrexed-platinum chemotherapy and bevacizumab
- Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation
- Partial Purine Nucleoside Phosphorylase Deficiency Helps Determine Minimal Activity Required for Immune and Neurological Development
- Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations
- Purine nucleoside phosphorylase deficiency induces p53-mediated intrinsic apoptosis in human induced pluripotent stem cell-derived neurons
- Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975-2022)
- Purine nucleoside phosphorylase enables dual metabolic checkpoints that prevent T cell immunodeficiency and TLR7-associated autoimmunity
- Quantitation of Purine in Urine by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry
- Recurrent infections, neurologic signs, low serum uric acid levels, and lymphopenia in childhood: Purine nucleoside phosphorylase deficiency, an emergency for infants
- Reduced symmetric dimethylation stabilizes vimentin and promotes metastasis in MTAP-deficient lung cancer
- The purine nucleoside phosphorylase pnp-1 regulates epithelial cell resistance to infection in C. elegans
- Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency