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    Results: 1 to 20 of 465

    1.

    Limited value of uric acid to creatinine ratios in estimating uric acid excretion.

    Wortmann RL, Fox IH.

    Ann Intern Med. 1980 Dec;93(6):822-5.PMID: 6778279 [PubMed - indexed for MEDLINE]Related articles

    2.

    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.PMID: 447834 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.

    Torres RJ, Prior C, Puig JG.

    Metabolism. 2007 Sep;56(9):1179-86.PMID: 17697859 [PubMed - indexed for MEDLINE]Related articles

    4.

    Efficacy and safety of allopurinol in patients with the Lesch-Nyhan syndrome and partial hypoxanthine- phosphoribosyltransferase deficiency: a follow-up study of 18 Spanish patients.

    Torres RJ, Prior C, Puig JG.

    Nucleosides Nucleotides Nucleic Acids. 2006;25(9-11):1077-82.PMID: 17065067 [PubMed - indexed for MEDLINE]Related articles

    5.

    Purine enzyme defects as a cause of acute renal failure in childhood.

    Simmonds HA, Cameron JS, Barratt TM, Dillon MJ, Meadow SR, Trompeter RS.

    Pediatr Nephrol. 1989 Oct;3(4):433-7.PMID: 2642113 [PubMed - indexed for MEDLINE]Related articles

    6.

    Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.

    Emmerson BT, Wyngaarden JB.

    Science. 1969 Dec 19;166(3912):1533-5.PMID: 17695080 [PubMed - indexed for MEDLINE]Related articles

    7.

    Lesch-Nyhan syndrome and its pathogenesis: purine concentrations in plasma and urine with metabolite profiles in CSF.

    Harkness RA, McCreanor GM, Watts RW.

    J Inherit Metab Dis. 1988;11(3):239-52.PMID: 3148065 [PubMed - indexed for MEDLINE]Related articles

    8.

    Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.

    Seegmiller JE.

    Ann Rheum Dis. 1980 Apr;39(2):103-17. Review. No abstract available. PMID: 6247984 [PubMed - indexed for MEDLINE]Related articlesFree article

    9.

    Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase.

    Cohen A, Doyle D, Martin DW Jr, Ammann AJ.

    N Engl J Med. 1976 Dec 23;295(26):1449-54.PMID: 825775 [PubMed - indexed for MEDLINE]Related articles

    10.

    [Xanthinuria with xanthine lithiasis in a patient with Lesch-Nyhan syndrome under allopurinol therapy]

    Rebentisch G, Stolz S, Muche J.

    Aktuelle Urol. 2004 Jun;35(3):215-21. German. PMID: 15258855 [PubMed - indexed for MEDLINE]Related articles

    11.

    Urinary metabolites in congenital hyperuricosuria.

    Balis ME, Krakoff IH, Berman PH, Dancis J.

    Science. 1967 May 26;156(3778):1122-3.PMID: 6024192 [PubMed - indexed for MEDLINE]Related articles

    12.

    The pathogenesis of the Lesch-Nyhan syndrome: ATP use is positively related to hypoxanthine supply to hypoxanthine guanine phosphoribosyltransferase.

    Harkness RA, McCreanor GM, Greenwood R.

    J Inherit Metab Dis. 1991;14(2):202-14.PMID: 1886405 [PubMed - indexed for MEDLINE]Related articles

    13.

    [Hereditary anomalies of purine metabolism. Current biochemical aspects]

    Perignon JL, Cartier P.

    Arch Fr Pediatr. 1980 Oct;37(8):487-90. French. No abstract available. PMID: 6255885 [PubMed - indexed for MEDLINE]Related articles

    14.

    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. Epub 2006 Nov 28.PMID: 17129743 [PubMed - indexed for MEDLINE]Related articles

    15.

    Renal excretion of hypoxanthine and xanthine in primary gout.

    Puig JG, Mateos FA, Jiménez ML, Ramos TH.

    Am J Med. 1988 Oct;85(4):533-7.PMID: 3177401 [PubMed - indexed for MEDLINE]Related articles

    16.

    Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.

    Bunn DN, Moss IK, Nicholls A, Scott JT, Snaith ML, Watson MR.

    Ann Rheum Dis. 1975 Jun;34(3):249-55.PMID: 1155984 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.

    Sorensen LB.

    J Clin Invest. 1970 May;49(5):968-78.PMID: 5441549 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.

    Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buño AS, O'Neill P.

    Medicine (Baltimore). 2001 Mar;80(2):102-12.PMID: 11307586 [PubMed - indexed for MEDLINE]Related articles

    19.

    [Xanthinuria (author's transl)]

    Cartier P, Perignon JL.

    Nouv Presse Med. 1978 Apr 22;7(16):1381-90. French. PMID: 673672 [PubMed - indexed for MEDLINE]Related articles

    20.

    The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.

    Nyhan WL.

    J Inherit Metab Dis. 1997 Jun;20(2):171-8. Review.PMID: 9211189 [PubMed - indexed for MEDLINE]Related articles

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