Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey-Reference-Cited by-同舟云学术

Adenine phosphoribosyltransferase deficiency in the United Kingdom: two novel mutations and a cross-sectional survey

Published:2016-10-03 Issue:6 Volume:9 Page:800-806
ISSN:2048-8505
Container-title:Clinical Kidney Journal
language:en
Short-container-title:Clin Kidney J

Author:

Balasubramaniam Gowrie S.,Arenas-Hernandez Monica,Escuredo Emilia,Fairbanks Lynette,Marinaki Tony,Mapplebeck Sarah,Sheaff Michael,Almond Michael K.

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

Link

http://academic.oup.com/ckj/article-pdf/9/6/800/8511209/sfw093.pdf

Reference21 articles.

1. Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

2. A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine;Cartier;C R Acad Sci Hebd Seances Acad Sci D,1974

3. The identification of 2,8-dihydroxyadenine, a new component of urinary stones

4. Complete Deficiency of Adenine Phosphoribosyltransferase

5. Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy;Simmonds;Adv Exp Med Biol,1977

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