Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.-Reference-Cited by-同舟云学术

Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.

Published:1979-01-01 Issue:1 Volume:54 Page:25-31
ISSN:0003-9888
Container-title:Archives of Disease in Childhood
language:en
Short-container-title:Archives of Disease in Childhood

Author:

Barratt T M,Simmonds H A,Cameron J S,Potter C F,Rose G A,Arkell D G,Williams D I

Publisher

BMJ

Subject

Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. The direct oxidation of adenine in vivo;Bendich, A.; Bosworth-Brown, G.; Philips, F.S.; Thiersch, J.B.;Journal ofBiological Chemistry,1950

2. Les activit6s purine-phosphoribosyl transferasiques des globules rouges humains: technique de dosage;Cartier, P.; Hamet, M.;Clinica chimica acta,1968

3. Une nouvelle maladie metabolique: le d6ficit complet en adenine-phosphoribosyltransferase avec lithiase de 2, 8-dihydroxyad6nine. Comptes rendus hebdomadaires des seances de l'Acadimic des;Cartier, P.; Hamet, M.;sciences, Se'rie D, Sciences Noevrelles,1974

4. Adenine and adenine metabolism in intact erythrocytes deficient in AMP: pyrophosphate phosphoribosyltransferase: a study of two families;Dean, B.M.; Perrett, D.; Simmonds, H.A.; Sahota, A.; Van Acker, K.J.;Clinical Science and Molecular Medicine,1978

5. Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyltransferase;Debray, H.; Cartier, P.; Temstet, A.; Cendron, J.;Pediatric Research,1976

Cited by 44 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. APRT deficiency: the need for early diagnosis;BMJ Case Reports;2018-10-23

2. An unusual cause of “pink diaper” in an infant: Answers;Pediatric Nephrology;2015-04-01

3. 2,8-Dihydroxyadenine Urolithiasis: A Not So Rare Inborn Error of Purine Metabolism;Nucleosides, Nucleotides and Nucleic Acids;2014-04-04

4. Purine Biochemistry;Gout;2012-08-22

5. Adenine Phosphoribosyltransferase Deficiency;Clinical Journal of the American Society of Nephrology;2012-06-14