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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Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: Alangari, Abdullah, Al-Harbi, Abdullah, Al-Ghonaium, Abdulaziz, Santisteban, Ines, Hershfield, Michael
Materialtyp: Artigo
Språk:Inglês
Publicerad: Medknow Publications 2009
Ämnen:
Case Report
Länkar: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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