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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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Bibliografske podrobnosti
Main Authors: Alangari, Abdullah, Al-Harbi, Abdullah, Al-Ghonaium, Abdulaziz, Santisteban, Ines, Hershfield, Michael
Format: Artigo
Jezik:Inglês
Izdano: Medknow Publications 2009
Teme:
Online dostop: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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