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Journal Abstract Search

144 related items for PubMed ID: 1462012

  • 1.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 2. Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds.
    Fjellstedt E, Harnevik L, Jeppsson JO, Tiselius HG, Söderkvist P, Denneberg T.
    Urol Res; 2003 Dec; 31(6):417-25. PubMed ID: 14586528
    [Abstract] [Full Text] [Related]

  • 3. Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community, Spain.
    Guillén M, Corella D, Cabello ML, García AM, Hernández-Yago J.
    Clin Biochem; 1999 Feb; 32(1):25-30. PubMed ID: 10074888
    [Abstract] [Full Text] [Related]

  • 4.
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  • 5. The spectrum of renal disease in Laurence-Moon-Biedl syndrome.
    Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, Farid NR, Pryse-Phillips W, Parfrey PS.
    N Engl J Med; 1988 Sep 08; 319(10):615-8. PubMed ID: 3412378
    [Abstract] [Full Text] [Related]

  • 6. Diagnostic and genetic studies in 43 patients with classic cystinuria.
    Byrd DJ, Lind M, Brodehl J.
    Clin Chem; 1991 Jan 08; 37(1):68-73. PubMed ID: 1899064
    [Abstract] [Full Text] [Related]

  • 7.
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  • 8. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.
    Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips W.
    N Engl J Med; 1989 Oct 12; 321(15):1002-9. PubMed ID: 2779627
    [Abstract] [Full Text] [Related]

  • 9. The renal clearance of amino acids in cystinuria.
    Crawhall JC, Scowen EF, Thompson CJ, Watts RW.
    J Clin Invest; 1967 Jul 12; 46(7):1162-71. PubMed ID: 6027079
    [Abstract] [Full Text] [Related]

  • 10. Clinical aspects of renal involvement in Bardet-Biedl syndrome.
    Anadoliiska A, Roussinov D.
    Int Urol Nephrol; 1993 Jul 12; 25(5):509-14. PubMed ID: 8270381
    [Abstract] [Full Text] [Related]

  • 11. Cystinuria with mental retardation and paroxysmal dyskinesia in 2 brothers.
    Cavanagh NP, Bicknell J, Howard F.
    Arch Dis Child; 1974 Aug 12; 49(8):662-4. PubMed ID: 4421405
    [No Abstract] [Full Text] [Related]

  • 12. [The Laurence-Moon-Bardet-Biedl syndrome].
    Stefan C, Mercaş V.
    Oftalmologia; 1994 Aug 12; 38(4):345-7. PubMed ID: 7947672
    [Abstract] [Full Text] [Related]

  • 13. [The value of echography in the early diagnosis of renal lesions in the Laurence-Moon-Bardet-Biedl syndrome. Apropos of a case].
    Colin D, Meunier P, Forestier D, Le Fur JM, Le Guyader J, Bellet M.
    J Radiol; 1989 Jan 12; 70(1):61-4. PubMed ID: 2654380
    [Abstract] [Full Text] [Related]

  • 14. Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome.
    Riise R, Andréasson S, Wright AF, Tornqvist K.
    Acta Ophthalmol Scand; 1996 Dec 12; 74(6):612-7. PubMed ID: 9017053
    [Abstract] [Full Text] [Related]

  • 15. Laurence-Moon-Biedl syndrome associated with diabetes insipidus neurohormonalis.
    Koepp P.
    Eur J Pediatr; 1975 Dec 09; 121(1):59-62. PubMed ID: 1213037
    [Abstract] [Full Text] [Related]

  • 16. Prospective analysis and classification of patients with cystinuria identified in a newborn screening program.
    Goodyer PR, Clow C, Reade T, Girardin C.
    J Pediatr; 1993 Apr 09; 122(4):568-72. PubMed ID: 8463902
    [Abstract] [Full Text] [Related]

  • 17. [Physiopathological considerations on the limits of detection of certain metabolic syndromes of the cystinuria-cystinosis type. Possibilities of rapid diagnosis].
    Pâtea P, Tănase-Mogos I, Ciortoloman H, Petrescu L, Ciucă C, Orăşeanu D, Jemna M, Meila P.
    Physiologie; 1980 Apr 09; 17(2):113-20. PubMed ID: 6770383
    [No Abstract] [Full Text] [Related]

  • 18. [Combined cystinuria-lysinuria in 2 brothers with mental retardation and morphologic and neurologic anomalies].
    Thiriar MJ, Szliwowski HB, Vis HL.
    Acta Neurol Psychiatr Belg; 1968 Mar 09; 68(3):216-27. PubMed ID: 4972603
    [No Abstract] [Full Text] [Related]

  • 19. Amino acid excretion studies in a cystinuric family.
    Leaf G, Alston WC, Bruce J.
    Clin Chim Acta; 1973 Sep 28; 48(1):5-8. PubMed ID: 4746729
    [No Abstract] [Full Text] [Related]

  • 20. The incidence of cystinuria in Japan.
    Ito H, Murakami M, Miyauchi T, Mori I, Yamaguchi K, Usui T, Shimazaki J.
    J Urol; 1983 May 28; 129(5):1012-4. PubMed ID: 6406687
    [Abstract] [Full Text] [Related]

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