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Journal Abstract Search

335 related items for PubMed ID: 25445397

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  • 2. 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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  • 3. Hepatocellular carcinoma in variegate porphyria: a serious complication.
    Schneider-Yin X, van Tuyll van Serooskerken AM, Went P, Tyblewski W, Poblete-Gutiérrez P, Minder EI, Frank J.
    Acta Derm Venereol; 2010 Sep; 90(5):512-5. PubMed ID: 20814629
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  • 6. Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
    Ausenda S, Di Pierro E, Brancaleoni V, Besana V, Cappellini MD.
    Hum Genet; 2007 Nov; 122(3-4):417. PubMed ID: 18350656
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  • 7. Bi-allelic hydroxymethylbilane synthase inactivation defines a homogenous clinico-molecular subtype of hepatocellular carcinoma.
    Molina L, Zhu J, Trépo E, Bayard Q, Amaddeo G, GENTHEP Consortium, Blanc JF, Calderaro J, Ma X, Zucman-Rossi J, Letouzé E.
    J Hepatol; 2022 Oct; 77(4):1038-1046. PubMed ID: 35636578
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  • 11. Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.
    Tabaro I, Reimondo G, Osella G, Aurizi C, Caraci P, Barbieri L, Giachino DF, Sirchia F, Terzolo M.
    Endocrine; 2018 Sep; 61(3):403-406. PubMed ID: 29516370
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  • 12. 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 Sep; 11(10):e0164857. PubMed ID: 27788171
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  • 15. Genetic and biochemical studies in Argentinean patients with variegate porphyria.
    Rossetti MV, Granata BX, Giudice J, Parera VE, Batlle A.
    BMC Med Genet; 2008 Jun 20; 9():54. PubMed ID: 18570668
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  • 18. Review: molecular pathogenesis of hepatic acute porphyrias.
    Grandchamp B, Puy H, Lamoril J, Deybach JC, Nordmann Y.
    J Gastroenterol Hepatol; 1996 Nov 20; 11(11):1046-52. PubMed ID: 8985829
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  • 19. Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria.
    de Villiers JN, Kotze MJ, van Heerden CJ, Sadie A, Gardner HF, Liebenberg J, van Zyl R, du Plessis L, Kimberg M, Frank J, Warnich L.
    Exp Dermatol; 2005 Jan 20; 14(1):50-5. PubMed ID: 15660919
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