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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Bibliographic Details
Main Authors: Alangari Abdullah, Al-Harbi Abdullah, Al-Ghonaium Abdulaziz, Santisteban Ines, Hershfield Michael
Format: Article
Language:English
Published: King Faisal Specialist Hospital and Research Centre 2009-01-01
Series:Annals of Saudi Medicine
Online Access:http://www.saudiannals.net/article.asp?issn=0256-4947;year=2009;volume=29;issue=4;spage=309;epage=312;aulast=Alangari