doi: 10.1007/978-1-4613-4223-6_37.
Complete deficiency of adenine phosphoribosyltransferase: report of a family
- PMID: 855710
- DOI: 10.1007/978-1-4613-4223-6_37
Item in Clipboard
Complete deficiency of adenine phosphoribosyltransferase: report of a family
Adv Exp Med Biol.
1977.
No abstract available
Similar articles
-
[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].C R Acad Hebd Seances Acad Sci D. 1974 Sep;279(10):883-6. C R Acad Hebd Seances Acad Sci D. 1974. PMID: 4219298 French. No abstract available.
-
Child's urinary lithiasis revealing a complete deficit in adenine phosphoribosyl transferase.Pediatr Res. 1976 Aug;10(8):762-6. doi: 10.1203/00006450-197608000-00014. Pediatr Res. 1976. PMID: 7766
-
Purine enzyme abnormalities: a four year experience.Adv Exp Med Biol. 1977;76A:265-9. doi: 10.1007/978-1-4613-4223-6_32. Adv Exp Med Biol. 1977. PMID: 855708 No abstract available.
-
2,8-Dihydroxyadeninuria--or when is a uric acid stone not a uric acid stone?Clin Nephrol. 1979 Nov;12(5):195-7. Clin Nephrol. 1979. PMID: 389507 Review. No abstract available.
-
[A case of 2,8-dihydroxyadenine stone with a partial deficiency of adenine phosphoribosyltransferase].Hinyokika Kiyo. 1990 Jan;36(1):73-6. Hinyokika Kiyo. 1990. PMID: 2408267 Review. Japanese.
Cited by
-
DNA binding activity from cultured human fibrolasts that is specific for partially depurinated DNA and that inserts purines into apurinic sites.Proc Natl Acad Sci U S A. 1979 Jan;76(1):141-4. doi: 10.1073/pnas.76.1.141. Proc Natl Acad Sci U S A. 1979. PMID: 218192 Free PMC article.
-
Pseudogenization of the Slc23a4 gene is necessary for the survival of Xdh-deficient mice.Sci Rep. 2025 Jan 25;15(1):3250. doi: 10.1038/s41598-025-87751-9. Sci Rep. 2025. PMID: 39863758 Free PMC article.