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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. Schneider-Yin X, et al. Among authors: poblete gutierrez p. J Hepatol. 2015 Mar;62(3):734-8. doi: 10.1016/j.jhep.2014.11.029. Epub 2014 Nov 28. J Hepatol. 2015. PMID: 25445397
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. Schneider-Yin X, et al. Acta Derm Venereol. 2010 Sep;90(5):512-5. doi: 10.2340/00015555-0870. Acta Derm Venereol. 2010. PMID: 20814629 Free article.
The acute hepatic porphyrias: current status and future challenges.
Siegesmund M, van Tuyll van Serooskerken AM, Poblete-Gutiérrez P, Frank J. Siegesmund M, et al. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):593-605. doi: 10.1016/j.bpg.2010.08.010. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955962 Review.
Porphyria cutanea tarda--when skin meets liver.
Frank J, Poblete-Gutiérrez P. Frank J, et al. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):735-45. doi: 10.1016/j.bpg.2010.07.002. Best Pract Res Clin Gastroenterol. 2010. PMID: 20955974 Review.
Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.
van Tuyll van Serooskerken AM, de Rooij FW, Edixhoven A, Bladergroen RS, Baron JM, Joussen S, Merk HF, Steijlen PM, Poblete-Gutiérrez P, te Velde K, Wilson JH, Koole RH, van Geel M, Frank J. van Tuyll van Serooskerken AM, et al. Among authors: poblete gutierrez p. J Invest Dermatol. 2011 Nov;131(11):2249-54. doi: 10.1038/jid.2011.186. Epub 2011 Jul 7. J Invest Dermatol. 2011. PMID: 21734717 Free article.
The Porphyrias.
Muschalek W, Hermasch MA, Poblete-Gutiérrez P, Frank J. Muschalek W, et al. Among authors: poblete gutierrez p. J Dtsch Dermatol Ges. 2022 Mar;20(3):316-331. doi: 10.1111/ddg.14743. J Dtsch Dermatol Ges. 2022. PMID: 35304965 Review.
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
van Tuyll van Serooskerken AM, Drögemöller BI, Te Velde K, Bladergroen RS, Steijlen PM, Poblete-Gutiérrez P, van Geel M, van Heerden CJ, Warnich L, Frank J. van Tuyll van Serooskerken AM, et al. Among authors: poblete gutierrez p. Br J Dermatol. 2012 Feb;166(2):261-5. doi: 10.1111/j.1365-2133.2011.10606.x. Br J Dermatol. 2012. PMID: 21910705
Dual porphyrias revisited.
Poblete-Gutiérrez P, Badeloe S, Wiederholt T, Merk HF, Frank J. Poblete-Gutiérrez P, et al. Exp Dermatol. 2006 Sep;15(9):685-91. doi: 10.1111/j.1600-0625.2006.00464.x. Exp Dermatol. 2006. PMID: 16881965 Review.
73 results