Disorders of Purine and Pyrimidine Metabolism-Reference-Cited by-同舟云学术

Disorders of Purine and Pyrimidine Metabolism

Published:2016 Issue: Volume: Page:495-513
ISSN:
Container-title:Inborn Metabolic Diseases
language:
Short-container-title:

Author:

Marie Sandrine,van den Berghe Georges,Vincent Marie-Françoise

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/978-3-662-49771-5_35

Reference148 articles.

1. Balasubramaniam S, Duley JA, Christodoulou J (2014) Inborn errors of purine metabolism: clinical update and therapies. J Inherit Metab Dis 37:669–686

2. Balasubramaniam S, Duley JA, Christodoulou J (2014) Inborn errors of pyrimidine metabolism: clinical update and therapy. J Inherit Metab Dis 37:687–698

3. Sperling O, Boer P, Persky-Brosh S et al. (1972) Altered kinetic property of erythrocyte phosphoribosylpyrophosphate synthetase in excessive purine production. Rev Eur Etud Clin Biol 17:703–706

4. Becker MA, Puig JG, Mateos FA et al. (1988) Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. Am J Med 85:383–390

5. Becker MA (2001) Phosphoribosylpyrophosphate synthetase and the regulation of phosphoribosylpyrophosphate production in human cells. Progr Nucleic Acid Res Mol Biol 69:115–148

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