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Journal Abstract Search

393 related items for PubMed ID: 30385147

  • 1. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.
    Loskove Y, Yasuda M, Chen B, Nazarenko I, Cody N, Desnick RJ.
    Mol Genet Metab; 2019 Nov; 128(3):352-357. PubMed ID: 30385147
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  • 2. Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
    Whatley SD, Mason NG, Woolf JR, Newcombe RG, Elder GH, Badminton MN.
    Clin Chem; 2009 Jul; 55(7):1406-14. PubMed ID: 19460837
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  • 3. Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.
    Schneider-Yin X, van Tuyll van Serooskerken AM, Siegesmund M, Went P, Barman-Aksözen J, Bladergroen RS, Komminoth P, Cloots RH, Winnepenninckx VJ, zur Hausen A, Weber M, Driessen A, Poblete-Gutiérrez P, Bauer P, Schroeder C, van Geel M, Minder EI, Frank J.
    J Hepatol; 2015 Mar; 62(3):734-8. PubMed ID: 25445397
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  • 7. Review: molecular pathogenesis of hepatic acute porphyrias.
    Grandchamp B, Puy H, Lamoril J, Deybach JC, Nordmann Y.
    J Gastroenterol Hepatol; 1996 Nov; 11(11):1046-52. PubMed ID: 8985829
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  • 8. Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
    Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC.
    Hum Genet; 2004 Feb; 114(3):256-62. PubMed ID: 14669009
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  • 9. Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
    Dragneva S, Szyszka-Niagolov M, Ivanova A, Mateva L, Izumi R, Aoki Y, Matsubara Y.
    JIMD Rep; 2014 Feb; 16():57-64. PubMed ID: 24997713
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  • 10. Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
    Yasuda M, Chen B, Desnick RJ.
    Mol Genet Metab; 2019 Nov; 128(3):320-331. PubMed ID: 30594473
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  • 15. International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
    Chen B, Whatley S, Badminton M, Aarsand AK, Anderson KE, Bissell DM, Bonkovsky HL, Cappellini MD, Floderus Y, Friesema ECH, Gouya L, Harper P, Kauppinen R, Loskove Y, Martásek P, Phillips JD, Puy H, Sandberg S, Schmitt C, To-Figueras J, Weiss Y, Yasuda M, Deybach JC, Desnick RJ.
    Genet Med; 2019 Nov; 21(11):2605-2613. PubMed ID: 31073229
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  • 18. Acute porphyrias in the Argentinean population: a review.
    Parera VE, De Siervi A, Varela L, Rossetti MV, Batlle AM.
    Cell Mol Biol (Noisy-le-grand); 2003 Jun; 49(4):493-500. PubMed ID: 12899439
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  • 19. Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
    Goncharova M, Pshenichnikova O, Luchinina Y, Pustovoit Y, Karpova I, Surin V.
    Clin Genet; 2019 Jul; 96(1):91-97. PubMed ID: 31044425
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  • 20. Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.
    Zhang Y, Xiao H, Xiong Q, Wu C, Li P.
    Int J Mol Sci; 2021 Oct 12; 22(20):. PubMed ID: 34681668
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