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Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India
The authors report a case of purine nucleoside phosphorylase (PNP) deficiency for the first time from India. The case presented with recurrent severe infections, developmental delays, seizures and progressive neurological deterioration. The diagnosis of primary immunodeficiency disorder was delayed...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3238109/ https://ncbi.nlm.nih.gov/pubmed/22669887 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.09.2011.4804 |
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