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Journal Abstract Search

221 related items for PubMed ID: 458830

  • 1. Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase.
    Lamon JM, Frykholm BC, Tschudy DP.
    J Med Genet; 1979 Apr; 16(2):134-9. PubMed ID: 458830
    [Abstract] [Full Text] [Related]

  • 2. [Uroporphyrinogen-I-synthetase in erythrocytes in acute intermittent porphyria].
    Iwanov ED, Adjarov D, Tsanev R.
    Acta Biol Med Ger; 1977 Apr; 36(5-6):801-4. PubMed ID: 602585
    [Abstract] [Full Text] [Related]

  • 3. Experience with the red cell uroporphyrinogen synthase (URO-S) assay in kindreds with acute intermittent porphyria (AIP).
    Kreimer-Birnbaum M, Bonkowsky HL, Bottomley SS.
    Int J Biochem; 1980 Apr; 12(5-6):807-10. PubMed ID: 7450137
    [No Abstract] [Full Text] [Related]

  • 4. Studies in porphyria. IV. Expression of the gene defect of acute intermittent porphyria in cultured human skin fibroblasts and amniotic cells: prenatal diagnosis of the porphyric trait.
    Sassa S, Solish G, Levere RD, Kappas A.
    J Exp Med; 1975 Sep 01; 142(3):722-31. PubMed ID: 1165472
    [Abstract] [Full Text] [Related]

  • 5. The diagnosis of acute intermittent porphyria. Usefulness and limitations of the erythrocyte uroporphyrinogen I synthase assay.
    Bottomley SS, Bonkowsky HL, Kreimer-Birnbaum M.
    Am J Clin Pathol; 1981 Aug 01; 76(2):133-9. PubMed ID: 7270494
    [Abstract] [Full Text] [Related]

  • 6. Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.
    McColl KE, Moore MR, Thompson GG, Goldberg A.
    J Med Genet; 1982 Aug 01; 19(4):271-6. PubMed ID: 7120315
    [Abstract] [Full Text] [Related]

  • 7. Red cell uroporphyrinogen I synthetase in acute intermittent porphyria.
    Mustajoki P.
    Ann Clin Res; 1976 Aug 01; 8 Suppl 17():133-8. PubMed ID: 1008483
    [Abstract] [Full Text] [Related]

  • 8. Erythrocyte uroporphyrinogen I synthase activity as an indicator of acute porphyria.
    Forman DT.
    Ann Clin Lab Sci; 1989 Aug 01; 19(2):128-32. PubMed ID: 2751241
    [Abstract] [Full Text] [Related]

  • 9. Erythrocyte uroporphyrinogen-I-synthetase activity in acute intermittent porphyria.
    Wilson JH, van den Berg JW, Brouwers D, Coppens K, van Zellem J.
    Neth J Med; 1979 Aug 01; 22(1):13-6. PubMed ID: 418940
    [No Abstract] [Full Text] [Related]

  • 10. Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.
    Mustajoki P.
    Ann Intern Med; 1981 Aug 01; 95(2):162-6. PubMed ID: 7258864
    [Abstract] [Full Text] [Related]

  • 11. Red blood cell porphobilinogen deaminase in the evaluation of acute intermittent porphyria.
    Pierach CA, Weimer MK, Cardinal RA, Bossenmaier IC, Bloomer JR.
    JAMA; 1987 Jan 02; 257(1):60-1. PubMed ID: 3783903
    [Abstract] [Full Text] [Related]

  • 12. Studies in porphyria. VII. Induction of uroporphyrinogen-I synthase and expression of the gene defect of acute intermittent porphyria in mitogen-stimulated human lymphocytes.
    Sassa S, Zalar GL, Kappas A.
    J Clin Invest; 1978 Feb 02; 61(2):499-508. PubMed ID: 621286
    [Abstract] [Full Text] [Related]

  • 13. Characterization of the porphobilinogen deaminase deficiency in acute intermittent porphyria. Immunologic evidence for heterogeneity of the genetic defect.
    Anderson PM, Reddy RM, Anderson KE, Desnick RJ.
    J Clin Invest; 1981 Jul 02; 68(1):1-12. PubMed ID: 7251856
    [Abstract] [Full Text] [Related]

  • 14. [Acute intermittent porphyria. Detection of asymptomatic carriers of the genetic defect].
    Grandchamp B, Grelier M, Nordmann Y.
    Nouv Presse Med; 1975 Jun 14; 4(24):1801-2. PubMed ID: 1161481
    [Abstract] [Full Text] [Related]

  • 15. Dual porphyria in double heterozygotes with porphobilinogen deaminase and uroporphyrinogen decarboxylase deficiencies.
    Doss MO.
    Clin Genet; 1989 Feb 14; 35(2):146-51. PubMed ID: 2721023
    [Abstract] [Full Text] [Related]

  • 16. [Acute intermittent porphyria. Familial study: detection of latent cases by the determination of erythrocyte uroporphyrinogen-1-synthetase activity].
    Guijarro Merino R, Villar Ortiz J, Lapetra Peralta J, Melero Bellido M, García Donas MA, Carneado de la Fuente J.
    Med Clin (Barc); 1986 Mar 01; 86(8):323-7. PubMed ID: 3713356
    [No Abstract] [Full Text] [Related]

  • 17. Family studies on the activity of uroporphyrinogen I synthase in diagnosis of acute intermittent porphyria.
    Astrup EG.
    Clin Sci Mol Med; 1978 Mar 01; 54(3):251-6. PubMed ID: 630801
    [No Abstract] [Full Text] [Related]

  • 18. The measurement of erythrocyte uroporphyrinogen 1 synthase in the diagnosis of latent and acute intermittent porphyria.
    Brocklehurst D, Wider de Xifra EA, Batlle A.
    Int J Biochem; 1980 Mar 01; 12(5-6):791-3. PubMed ID: 7450134
    [No Abstract] [Full Text] [Related]

  • 19. [Uroporphyrinogen synthase in erythrocytes in acute intermittent porphyria: new pathobiochemical aspects (author's transl)].
    Doss M, von Tiepermann R.
    J Clin Chem Clin Biochem; 1978 Feb 01; 16(2):111-8. PubMed ID: 624910
    [Abstract] [Full Text] [Related]

  • 20. [Acute intermittent porphyria: uroporphyrinogen-I-synthetase activity in erythrocytes as a diagnostic index].
    Formgren B, Wetterberg L.
    Lakartidningen; 1978 May 10; 75(19):1921-4. PubMed ID: 651454
    [No Abstract] [Full Text] [Related]

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