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    Results: 1 to 20 of 198

    1.

    Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.

    Emmerson BT, Wallace DC, Thompson CJ.

    Ann Intern Med. 1972 Feb;76(2):285-7. No abstract available. PMID: 5009595 [PubMed - indexed for MEDLINE]Related articles

    2.

    A new assay method for hypoxanthine-guanine phosphoribosyltransferase.

    Chow DC, Kawahara FS, Saunders T, Sorensen LB.

    J Lab Clin Med. 1970 Nov;76(5):733-8. No abstract available. PMID: 5477333 [PubMed - indexed for MEDLINE]Related articles

    3.

    Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.

    McDonald JA, Kelley WN.

    Science. 1971 Feb 19;171(972):689-91.PMID: 4322125 [PubMed - indexed for MEDLINE]Related articles

    4.

    Lesch-Nyhan syndrome.

    Arima M, Aoki N, Ono K.

    Paediatr Univ Tokyo. 1970 Dec;18:25-31. No abstract available. PMID: 5514644 [PubMed - indexed for MEDLINE]Related articles

    5.

    [Congenital disorder of purine metabolism]

    Wada Y.

    Nippon Rinsho. 1970 May;28(5):1550-76. Review. Japanese. No abstract available. PMID: 4916331 [PubMed - indexed for MEDLINE]Related articles

    6.

    Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

    Seegmiller JE, Rosenbloom FM, Kelley WN.

    Science. 1967 Mar 31;155(770):1682-4.PMID: 6020292 [PubMed - indexed for MEDLINE]Related articles

    7.

    [Lesh-Nyhan syndrome. A congenital defect of purine metabolism with the clinical symptoms of gout and central nervous disorders]

    Kaiser W, Zöllner N.

    Dtsch Med Wochenschr. 1970 May 8;95(19):1077-80. German. No abstract available. PMID: 5424954 [PubMed - indexed for MEDLINE]Related articles

    8.

    [From Lesch-Nyhan disease to primary gout]

    Ryckewaert A, Audeval B, Kuntz D.

    Rev Eur Etud Clin Biol. 1970 Jun-Jul;15(6):605-9. Review. French. No abstract available. PMID: 4919604 [PubMed - indexed for MEDLINE]Related articles

    9.

    Biochemically marked lymphocytoid lines: establishment of Lesch-Nyhan cells.

    Choi KW, Bloom AD.

    Science. 1970 Oct 2;170(953):89-90.PMID: 5452899 [PubMed - indexed for MEDLINE]Related articles

    10.

    Inborn terror of metabolism.

    Vaisrub S.

    JAMA. 1970 Dec 21;214(12):2186-7. No abstract available. PMID: 5536584 [PubMed - indexed for MEDLINE]Related articles

    11.

    X-linked primary hyperuricaemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy.

    Dreifuss FE, Newcombe DS, Shapiro SL, Sheppard GL.

    J Ment Defic Res. 1968 Jun;12(2):100-7. No abstract available. PMID: 5663935 [PubMed - indexed for MEDLINE]Related articles

    12.

    Lesch-Nyhan syndrome: preventive control.

    Seegmiller JE.

    Science. 1970 Dec 18;170(964):1333. No abstract available. PMID: 5529524 [PubMed - indexed for MEDLINE]Related articles

    13.

    The urinary excretion of aminoimidazolecarboxamide in the Lesch-Nyhan syndrome.

    Newcombe DS.

    Pediatrics. 1970 Oct;46(4):508-12. No abstract available. PMID: 5503686 [PubMed - indexed for MEDLINE]Related articles

    14.

    Further studies of the enzyme composition of mutant cells in X-linked uric aciduria.

    Sweetman L, Nyhan WL.

    Arch Intern Med. 1972 Aug;130(2):214-20. No abstract available. PMID: 5065734 [PubMed - indexed for MEDLINE]Related articles

    15.

    Excessive purine synthesis and neurologic dysfunction in children.

    Sorensen LB, Kawahara F, Chow D, Benke PJ, Coben L.

    Arthritis Rheum. 1970 Nov-Dec;13(6):835-45. No abstract available. PMID: 4250363 [PubMed - indexed for MEDLINE]Related articles

    16.

    Clinical features of patients with the "partial" deficiency of the X-linked uricaciduria enzyme.

    Greene ML.

    Arch Intern Med. 1972 Aug;130(2):193-8. No abstract available. PMID: 5050554 [PubMed - indexed for MEDLINE]Related articles

    17.

    Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.

    Bakay B, Nyhan WL.

    Proc Natl Acad Sci U S A. 1972 Sep;69(9):2523-6.PMID: 4341698 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Absence of guanine deaminase from cerebellum.

    Dawson DM.

    Neurology. 1971 Jun;21(6):621-6. No abstract available. PMID: 4254462 [PubMed - indexed for MEDLINE]Related articles

    19.

    The Lesch-Nyhan syndrome. First case description in a South African family.

    Shnier MH, Sims F, Zail S.

    S Afr Med J. 1972 Jul 8;46(28):947-9. No abstract available. PMID: 5055933 [PubMed - indexed for MEDLINE]Related articles

    20.

    Effects of the uricogenic agent, 2-ethylamino-1,3,4-thiadiazole in hypoxanthine-guanine phosphoribosyl transferase deficiency.

    Nyhan WL, Sweetman L, Lesch M.

    Metabolism. 1968 Oct;17(10):846-53. No abstract available. PMID: 4877987 [PubMed - indexed for MEDLINE]Related articles

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