[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]
[Article in
French]
- PMID: 4219298
Item in Clipboard
[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine]
[Article in
French]
C R Acad Hebd Seances Acad Sci D.
1974 Sep.
No abstract available
Similar articles
-
Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.J Urol. 1988 Dec;140(6):1470-2. doi: 10.1016/s0022-5347(17)42075-1. J Urol. 1988. PMID: 3193517
-
[Hereditary deficiency in adenine phosphoribosyltransferase: a metabolic cause of urinary lithiasis in children (author's transl)].Nouv Presse Med. 1980 Jun 7;9(25):1767-70. Nouv Presse Med. 1980. PMID: 6892958 French.
-
Complete deficiency of adenine phosphoribosyltransferase: report of a family.Adv Exp Med Biol. 1977;76A:295-305. doi: 10.1007/978-1-4613-4223-6_37. Adv Exp Med Biol. 1977. PMID: 855710 No abstract available.
-
[2,8-Dihydroxyadenine lithiasis].Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):467-9. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590103 Review. Japanese. 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.
Cited by
-
Genetic and clinical studies on 19 families with adenine phosphoribosyltransferase deficiencies.Hum Genet. 1987 Feb;75(2):163-8. doi: 10.1007/BF00591080. Hum Genet. 1987. PMID: 3817810
-
Adenine phosphoribosyltransferase deficiency: a case diagnosed by GC-MS identification of 2,8-dihydroxyadenine in urinary crystals.J Inherit Metab Dis. 1987;10(2):187-94. doi: 10.1007/BF01800046. J Inherit Metab Dis. 1987. PMID: 3116337
-
Renal failure due to 2,8-dihydroxyadenine urolithiasis.Eur J Pediatr. 1982 Jul;138(4):346-9. doi: 10.1007/BF00442515. Eur J Pediatr. 1982. PMID: 7128645
-
Is adenine phophorybosiltransferase deficiency a still underdiagnosed cause of urolithiasis and chronic renal failure? A report of two cases in a family with an uncommon novel mutation.NDT Plus. 2008 Oct;1(5):292-5. doi: 10.1093/ndtplus/sfn072. Epub 2008 Jun 19. NDT Plus. 2008. PMID: 25983915 Free PMC article.
-
A rare enzyme deficiency causing formation of 2,8-dihydroxyadenine (purine body) calculi.Int Urol Nephrol. 1985;17(3):231-3. doi: 10.1007/BF02085409. Int Urol Nephrol. 1985. PMID: 4086237