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Recurrent infections, neurologic signs, low serum uric acid levels, and lymphopenia in childhood: Purine nucleoside phosphorylase deficiency, an emergency for infants
Purine nucleoside phosphorylase deficiency is one of the severe combined immunodeficiencies, which often clinically manifests with recurrent infections, neurologic symptoms and autoimmune diseases, and leads to thymocyte development and peripheral T cell activation defects. It is an immunologic emer...
Autores principales: | Kütükçüler, Necil, Bölük, Ezgi, Tökmeci, Nazan, Karaca, Neslihan Edeer, Azarsız, Elif, Aksu, Güzide, Aykut, Ayça |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Kare Publishing
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536453/ https://www.ncbi.nlm.nih.gov/pubmed/33061764 http://dx.doi.org/10.14744/TurkPediatriArs.2019.83788 |
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