A novel mutation in purine nucleoside phosphorylase in a child with normal uric acid levels
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
Reference13 articles.
1. Purine nucleoside phosphorylase deficiency;Markert;Immunodefic Rev,1991
2. Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and B-cell immunity;Giblett;Lancet,1975
3. Primary immunodeficiency diseases a molecular and genetic approach;Hirschhorn,2007
4. Successful HLA—identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning;Classen;Bone Marrow Transplant,2001
5. T-cell immunodeficiencies;Elder;Pediatr Clin N Am,2000
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1. Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation;Journal of Clinical Immunology;2023-09-20
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3. Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975–2022);Journal of Clinical Immunology;2023-06-16
4. Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening;International Journal of Neonatal Screening;2021-09-29
5. TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity;Clinical and Experimental Immunology;2020-07-21
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