Usefulness of intact erythrocyte studies in the diagnosis of inherited purine and pyrimidine defects
- PMID: 2425562
- DOI: 10.1007/978-1-4684-5104-7_16
Usefulness of intact erythrocyte studies in the diagnosis of inherited purine and pyrimidine defects
Similar articles
-
Altered pyridine metabolism in the erythrocytes of a mentally retarded infant with partial HPRT deficiency.Adv Exp Med Biol. 1994;370:349-52. doi: 10.1007/978-1-4615-2584-4_75. Adv Exp Med Biol. 1994. PMID: 7660925 No abstract available.
-
HGPRT deficiency with normal erythrocyte PRPP and APRT activity.Adv Exp Med Biol. 1986;195 Pt A:163-5. doi: 10.1007/978-1-4684-5104-7_25. Adv Exp Med Biol. 1986. PMID: 2425564 No abstract available.
-
Incorporation of purine bases by intact red blood cells.Adv Exp Med Biol. 1977;76B:139-50. doi: 10.1007/978-1-4684-3285-5_20. Adv Exp Med Biol. 1977. PMID: 404855 No abstract available.
-
[Inherited disorders of uric acid metabolism--classification, enzymatic- and DNA-diagnosis].Nihon Rinsho. 1996 Dec;54(12):3303-8. Nihon Rinsho. 1996. PMID: 8976110 Review. Japanese.
-
Genetic defects in human purine and pyrimidine metabolism.Annu Rev Genet. 1982;16:297-328. doi: 10.1146/annurev.ge.16.120182.001501. Annu Rev Genet. 1982. PMID: 6297375 Review. No abstract available.
Cited by
-
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.J Biol Chem. 2012 Jan 27;287(5):2997-3008. doi: 10.1074/jbc.M111.317701. Epub 2011 Dec 7. J Biol Chem. 2012. PMID: 22157001 Free PMC article.