[Treatment of gouty purine metabolism disorder with mercapto-pyrazolo-pyrimidine (thiopurinol)].
Inborn errors of purine and pyrimidine metabolism: A guide to diagnosis.
Jurecka A, Tylki-Szymanska A.
Mol Genet Metab. 2022 Jul;136(3):164-176. doi: 10.1016/j.ymgme.2022.02.007. Epub 2022 Feb 19.
Neurological presentations of inborn errors of purine and pyrimidine metabolism.
Nassogne MC, Marie S, Dewulf JP.
Eur J Paediatr Neurol. 2024 Jan;48:69-77. doi: 10.1016/j.ejpn.2023.11.013. Epub 2023 Dec 4.
Neurological disorders of purine and pyrimidine metabolism.
Micheli V, Camici M, Tozzi MG, Ipata PL, Sestini S, Bertelli M, Pompucci G.
Curr Top Med Chem. 2011;11(8):923-47. doi: 10.2174/156802611795347645.
Disorders of purine biosynthesis metabolism.
Dewulf JP, Marie S, Nassogne MC.
Mol Genet Metab. 2022 Jul;136(3):190-198. doi: 10.1016/j.ymgme.2021.12.016. Epub 2021 Dec 30.
Inborn errors of purine and pyrimidine metabolism.
Jurecka A.
J Inherit Metab Dis. 2009 Apr;32(2):247-63. doi: 10.1007/s10545-009-1094-z. Epub 2009 Mar 15.
Erythrocyte disorders of purine and pyrimidine metabolism.
Valentine WN, Paglia DE.
Hemoglobin. 1980;4(5-6):669-81. doi: 10.3109/03630268008997736.
Mitochondrial purine and pyrimidine metabolism and beyond.
Wang L.
Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):578-594. doi: 10.1080/15257770.2015.1125001.
When and how does one search for inborn errors of purine and pyrimidine metabolism?
Simmonds HA.
Pharm World Sci. 1994 Apr 15;16(2):139-48. doi: 10.1007/BF01880664.
Novel developments in metabolic disorders of purine and pyrimidine metabolism and therapeutic applications of their analogs.
Torres RJ, Peters GJ, Puig JG.
Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):165-73. doi: 10.1080/15257770.2014.898071.
Inherited defects of purine and pyrimidine metabolism: laboratory methods for diagnosis.
Duran M, Dorland L, Meuleman EE, Allers P, Berger R.
J Inherit Metab Dis. 1997 Jun;20(2):227-36. doi: 10.1023/a:1005360907238.
