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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Detalles Bibliográficos
Autores principales: Alangari, Abdullah, Al-Harbi, Abdullah, Al-Ghonaium, Abdulaziz, Santisteban, Ines, Hershfield, Michael
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841460/
https://www.ncbi.nlm.nih.gov/pubmed/19584574
http://dx.doi.org/10.4103/0256-4947.55320

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841460/
https://www.ncbi.nlm.nih.gov/pubmed/19584574
http://dx.doi.org/10.4103/0256-4947.55320

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