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Journal Abstract Search

129 related items for PubMed ID: 477417

  • 41. [Pathogenesis and clinical manifestations of Lesch-Nyhan syndrome].
    Berger H, Zoch-Zwierz W.
    Pediatr Pol; 1977 Mar; 52(3):335-41. PubMed ID: 846797
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  • 45. Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Cossu A, Micheli V, Jacomelli G, Carcassi A.
    Clin Exp Rheumatol; 2002 Mar; 20(6):851-3. PubMed ID: 12508781
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  • 52. Study of immunoreactive material in patients with deficient HPRT activity.
    Bakay B, Graf M, Carey S, Nyhan WL.
    Adv Exp Med Biol; 1977 Mar; 76A():361-9. PubMed ID: 855716
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  • 53. Deletion in the hypoxanthine phosphoribosyltransferase gene caused by Alu-Alu recombination in two Japanese patients with Lesch-Nyhan syndrome.
    Mizunuma M, Fujimori S, Kaneko K, Kamatani N.
    Adv Exp Med Biol; 2000 Mar; 486():23-7. PubMed ID: 11783490
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  • 57. Different phenotypes among Lesch-Nyhan variants: clinical reality or limitation of ascertainment?
    Fu R, Jinnah HA.
    Arch Neurol; 2011 Feb; 68(2):270; author reply 270-1. PubMed ID: 21321001
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  • 58. Partial hypoxanthine phosphoribosyltransferase deficiency: unrecognized until adult ages.
    Kamatani N.
    Intern Med; 1998 Nov; 37(11):905-6. PubMed ID: 9868946
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