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PUBMED FOR HANDHELDS

Journal Abstract Search

393 related items for PubMed ID: 30385147

  • 21.
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  • 22. Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
    Solis C, Lopez-Echaniz I, Sefarty-Graneda D, Astrin KH, Desnick RJ.
    Mol Med; 1999 Oct; 5(10):664-71. PubMed ID: 10602775
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  • 24. Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
    Clavero S, Bishop DF, Haskins ME, Giger U, Kauppinen R, Desnick RJ.
    Hum Mol Genet; 2010 Feb 15; 19(4):584-96. PubMed ID: 19934113
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  • 26. Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.
    Ferrer MD, Mestre-Alfaro A, Martínez-Tomé M, Carrera-Quintanar L, Capó X, Jiménez-Monreal AM, García-Diz L, Roche E, Murcia MA, Tur JA, Pons A.
    PLoS One; 2016 Feb 15; 11(10):e0164857. PubMed ID: 27788171
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  • 29. Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria.
    Gonzaga AD, de Amorim LM, Fonseca AB, Nogueira TL, Pereira OM, Nagai MA, de Oliveira Barretto OC, Ribeiro GS.
    Ann Hum Genet; 2015 May 15; 79(3):162-72. PubMed ID: 25703257
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  • 30.
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  • 31. Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
    Ramdall RB, Cunha L, Astrin KH, Katz DR, Anderson KE, Glucksman M, Bottomley SS, Desnick RJ.
    Genet Med; 2000 May 15; 2(5):290-5. PubMed ID: 11399210
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  • 32. Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.
    Yasuda M, Desnick RJ.
    Mol Genet Metab; 2019 Nov 15; 128(3):332-341. PubMed ID: 30737139
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  • 36. Novel A219P mutation of hydroxymethylbilane synthase identified in a Chinese woman with acute intermittent porphyria and syndrome of inappropriate antidiuretic hormone.
    Li Y, Qu H, Wang H, Deng H, Liu Z.
    Ann Hum Genet; 2015 Jul 15; 79(4):310-2. PubMed ID: 25787008
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  • 39. Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
    Astrin KH, Desnick RJ.
    Hum Mutat; 1994 Jul 15; 4(4):243-52. PubMed ID: 7866402
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