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3. Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency. Lorentz WB; Burton BK; Trillo A; Browning MC J Pediatr; 1984 Jan; 104(1):94-7. PubMed ID: 6690680 [No Abstract] [Full Text] [Related]
4. Primary overproduction of urate caused by a partial deficiency of hypoxanthine-guanine phosphoribosyl transferase. Cassidy M; Gregory MC; Harley EH S Afr Med J; 1980 Jun; 57(23):948-50. PubMed ID: 7404061 [TBL] [Abstract][Full Text] [Related]
5. Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure. Andrés A; Praga M; Ruilope LM; Martínez JM; Millet VG; Bello I; Rodicio JL Nephron; 1987; 46(2):179-81. PubMed ID: 3600927 [TBL] [Abstract][Full Text] [Related]
6. Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion. van Dael CM; Pierik LJ; Reijngoud DJ; Niezen-Koning KE; van Diggelen OP; van Spronsen FJ Mol Genet Metab; 2007 Feb; 90(2):221-3. PubMed ID: 17129743 [TBL] [Abstract][Full Text] [Related]
7. Uric acid lithiasis associated with altered kinetics of hypoxanthine-guanine phosphoribosyltranferase. Henderson JF; Dossetor JB; Dasgupta MK; Russell AS Clin Biochem; 1976 Feb; 9(1):4-8. PubMed ID: 1248112 [TBL] [Abstract][Full Text] [Related]
8. Hypoxanthine guanine phosphoribosyl transferase deficiency presenting with gout and renal failure in infancy. Holland PC; Dillon MJ; Pincott J; Simmonds HA; Barratt TM Arch Dis Child; 1983 Oct; 58(10):831-3. PubMed ID: 6639135 [TBL] [Abstract][Full Text] [Related]
9. Impaired kinetic properties of hypoxanthine-guanine phosphoribosyl transferase as a cause of uric acid nephropathy in early infancy. Kerem E; Branski D; Gross-Kieselstein E; Hurvitz H; Abrahamov A; Pollack Y Eur J Pediatr; 1987 Nov; 146(6):595-7. PubMed ID: 3428293 [TBL] [Abstract][Full Text] [Related]
10. Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage. Edwards NL; Recker D; Fox IH J Clin Invest; 1979 May; 63(5):922-30. PubMed ID: 447834 [TBL] [Abstract][Full Text] [Related]
12. Renal failure in infancy due to over-production of urate. Batch JA; Riek RP; Gordon RB; Burke JR; Emmerson BT Aust N Z J Med; 1984 Dec; 14(6):852-4. PubMed ID: 6598054 [TBL] [Abstract][Full Text] [Related]
13. [Definition and classification of hyperuricemia]. Yamamoto T Nihon Rinsho; 2008 Apr; 66(4):636-40. PubMed ID: 18409507 [TBL] [Abstract][Full Text] [Related]
14. Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist? Chavarriaga J; Ocampo M; Fakih N; Silva Herrera J Urol Int; 2019; 102(2):233-237. PubMed ID: 30384379 [TBL] [Abstract][Full Text] [Related]
15. Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout. Emmerson BT; Gordon RB; Johnson LA Q J Med; 1976 Jan; 45(177):49-61. PubMed ID: 769040 [TBL] [Abstract][Full Text] [Related]
16. Partial hypoxanthine-guanine phosphoribosyl transferase deficiency in two Korean siblings--a new mutation. Choi Y; Koo JW; Ha IS; Yamada Y; Goto H; Ogasawara N Pediatr Nephrol; 1993 Dec; 7(6):739-40. PubMed ID: 8130095 [TBL] [Abstract][Full Text] [Related]
17. A distinct human variant of hypoxanthine-guanine phosphoribosyl transferase. Sweetman L; Hoch MA; Bakay B; Borden M; Lesh P; Nyhan WL J Pediatr; 1978 Mar; 92(3):385-9. PubMed ID: 632976 [TBL] [Abstract][Full Text] [Related]
18. Urate nephropathy associated with impaired kinetic properties of hypoxanthine phosphoribosyl transferase in a 45-day-old infant. Singal R; Krishnamurthy S; Narayanan P; Rajesh NG; Choudhary B; Jacomelli G; Micheli V Clin Exp Nephrol; 2012 Feb; 16(1):164-7. PubMed ID: 21904906 [TBL] [Abstract][Full Text] [Related]
19. [A case of partial deficiency of hypoxanthine-guanine phosphoribosyltransferase]. Fujita K; Aoyagi Y; Kamimura T; Ichida F; Kamatani N Nihon Naika Gakkai Zasshi; 1988 May; 77(5):717-21. PubMed ID: 3216144 [No Abstract] [Full Text] [Related]
20. Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout. Fox IH; Dwosh IL; Marchant PJ; Lacroix S; Moore MR; Omura S; Wyhofsky V J Clin Invest; 1975 Nov; 56(5):1239-49. PubMed ID: 1184748 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]