Combined immunodeficiency due to purine nucleoside phosphorylase deficiency: Outcome of three patients
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference24 articles.
1. Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice;Arpaia;J. Exp. Med.,2000
2. Human CD34+ cells differentiate into microglia and express recombinant therapeutic protein;Asheuer;Proc. Natl. Acad. Sci. U. S. A.,2004
3. Novel genetic mutations in the first Swedish patient with purine nucleoside phosphorylase deficiency and clinical outcome after hematopoietic stem cell transplantation with HLA-matched unrelated donor;Brodszki;JIMD Rep,2015
4. Purine nucleoside phosphorylases: properties, functions, and clinical aspects;Bzowska;Pharmacol. Ther.,2000
5. Pediatric neurological syndromes and inborn errors of purine metabolism;Camici;Neurochem. Int.,2009
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1. Neurological presentations of inborn errors of purine and pyrimidine metabolism;European Journal of Paediatric Neurology;2024-01
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3. Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation;Journal of Clinical Immunology;2023-09-20
4. Neurologic Status of Patients With Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation;2023-07-18
5. Inborn Errors of Purine Salvage and Catabolism;Metabolites;2023-06-24
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