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Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients
Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder that results in combined immunodeficiency, neurologic dysfunction and autoimmunity. PNP deficiency has never been reported from Saudi Arabia or in patients with an Arabic ethnic background. We report on...
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| Главные авторы: | , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Medknow Publications
2009
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2841460/ https://ncbi.nlm.nih.gov/pubmed/19584574 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0256-4947.55320 |
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