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46. [Phosphoribosyltransferase (APRT) deficiency--molecular and clinical aspects of dihydroxyadeninuria]. Safranow K Postepy Hig Med Dosw; 1998; 52(1):89-104. PubMed ID: 9608233 [TBL] [Abstract][Full Text] [Related]
47. Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy. Simmonds HA; Van Acker KJ; Cameron JS; McBurney A Adv Exp Med Biol; 1977; 76B():304-11. PubMed ID: 857624 [TBL] [Abstract][Full Text] [Related]
48. 2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease. Ceballos-Picot I; Perignon JL; Hamet M; Daudon M; Kamoun P Lancet; 1992 Apr; 339(8800):1050-1. PubMed ID: 1349069 [No Abstract] [Full Text] [Related]
49. Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies. Nobori T; Kamatani N; Mikanagi K; Nishida Y; Nishioka K Biochem Biophys Res Commun; 1986 Jun; 137(3):998-1005. PubMed ID: 3488062 [TBL] [Abstract][Full Text] [Related]
50. Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. Terai C; Hakoda M; Yamanaka H; Kamatani N; Okai M; Takahashi F; Kashiwazaki S Clin Genet; 1995 Nov; 48(5):246-50. PubMed ID: 8825602 [TBL] [Abstract][Full Text] [Related]
53. Complete adenine phosphoribosyltransferase (APRT) deficiency in two siblings: report of a new case. Cartier P; Hamet M; Vincens A; Perignon JL Adv Exp Med Biol; 1980; 122A():343-8. PubMed ID: 7424655 [No Abstract] [Full Text] [Related]
54. Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child. Barratt TM; Simmonds HA; Cameron JS; Potter CF; Rose GA; Arkell DG; Williams DI Arch Dis Child; 1979 Jan; 54(1):25-31. PubMed ID: 420519 [TBL] [Abstract][Full Text] [Related]
55. 2,8-dihydroxyadeninuria: are there no cases in Scandinavia? Arnadottir M; Laxdal T; Halldorsdottir B Scand J Urol Nephrol; 2005; 39(1):82-6. PubMed ID: 15764278 [TBL] [Abstract][Full Text] [Related]
56. [2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report]. Ohne T; Fujito A; Koga K; Imaide Y; Uchida M Hinyokika Kiyo; 1998 Oct; 44(10):725-8. PubMed ID: 9850838 [TBL] [Abstract][Full Text] [Related]
57. Adenine phosphoribosyltransferase deficiency in Iceland. Laxdal T; Jónasson TA Acta Med Scand; 1988; 224(6):621-6. PubMed ID: 3207073 [TBL] [Abstract][Full Text] [Related]
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59. Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. Taniguchi A; Tsuchida S; Kuno S; Mita M; Machida T; Ioritani N; Terai C; Yamanaka H; Kamatani N Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1141-5. PubMed ID: 15571218 [TBL] [Abstract][Full Text] [Related]
60. Long-term evolution of type 1 adenine phosphoribosyltransferase (APRT) deficiency. Van Acker KJ; Simmonds HA Adv Exp Med Biol; 1991; 309B():91-4. PubMed ID: 1781413 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]