When and how does one search for inborn errors of purine and pyrimidine metabolism?

Author:

Simmonds H. A.

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Pharmaceutical Science,Pharmacology,Toxicology,Pharmacy,General Medicine,Pharmacology (medical),Pharmacology

Reference30 articles.

1. Zöllner N. The study of inborn errors of metabolism — 40 years of experience at the Poliklinik of the University of Munich. In: Gresser U, Zöllner N, editors. Urate deposition in man and its clinical consequences. Heidelberg: Springer-Verlag, 1991:1–12.

2. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. 6th ed. New York: McGrawHill, 1989:965–1128.

3. Simmonds HA. Purine and pyrimidine disorders. In: Holton JB, editor. Inherited metabolic diseases. 2nd ed. Edinburgh: Churchill Livingstone, 1993:297–349.

4. Jaeken J, Van den Berghe G. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 1984;2:1058–61.

5. Watts RWE. Defects of tetrahydrobiopterin synthesis and their possible relationship to a disorder of purine metabolism (the Lesch-Nyhan syndrome). Adv Enzyme Regul 1985;23:25–58.

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5. Models for the regulation of purine metabolism in rat hepatocytes: evaluation of tracer kinetic experiments;American Journal of Physiology-Gastrointestinal and Liver Physiology;1997-07-01

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