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Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype.

Adams P, Altes A, Brissot P, Butzeck B, Cabantchik I, Cançado R, Distante S, Evans P, Evans R, Ganz T, Girelli D, Hultcrantz R, McLaren G, Marris B, Milman N, Nemeth E, Nielsen P, Pineau B, Piperno A, Porto G, Prince D, Ryan J, Sanchez M, Santos P, Swinkels D, Teixeira E, Toska K, Vanclooster A, White D; Contributors and Hemochromatosis International Taskforce. Adams P, et al. Hepatol Int. 2018 Mar;12(2):83-86. doi: 10.1007/s12072-018-9855-0. Epub 2018 Mar 27. Hepatol Int. 2018. PMID: 29589198 Free PMC article.

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S. Porto G, et al. Eur J Hum Genet. 2016 Apr;24(4):479-95. doi: 10.1038/ejhg.2015.128. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153218 Free PMC article.

EASL clinical practice guidelines for HFE hemochromatosis.

European Association For The Study Of The Liver. European Association For The Study Of The Liver. J Hepatol. 2010 Jul;53(1):3-22. doi: 10.1016/j.jhep.2010.03.001. Epub 2010 Apr 18. J Hepatol. 2010. PMID: 20471131

Screening for hemochromatosis: recommendation statement.

U.S. Preventive Services Task Force. U.S. Preventive Services Task Force. Ann Intern Med. 2006 Aug 1;145(3):204-8. doi: 10.7326/0003-4819-145-3-200608010-00008. Ann Intern Med. 2006. PMID: 16880462 Free article.

Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians.

Qaseem A, Aronson M, Fitterman N, Snow V, Weiss KB, Owens DK; Clinical Efficacy Assessment Subcommittee of the American College of Physicians. Qaseem A, et al. Ann Intern Med. 2005 Oct 4;143(7):517-21. doi: 10.7326/0003-4819-143-7-200510040-00010. Ann Intern Med. 2005. PMID: 16204164 Free article.

Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis.

Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA. Witte DL, et al. Clin Chim Acta. 1996 Feb 28;245(2):139-200. doi: 10.1016/0009-8981(95)06212-2. Clin Chim Acta. 1996. PMID: 8867884 Review.

ACG Clinical Guideline: Hereditary Hemochromatosis.

Kowdley KV, Brown KE, Ahn J, Sundaram V. Kowdley KV, et al. Am J Gastroenterol. 2019 Aug;114(8):1202-1218. doi: 10.14309/ajg.0000000000000315. Am J Gastroenterol. 2019. PMID: 31335359 Review.

Non-invasive diagnosis and follow-up of hyperferritinaemia.

Bardou-Jacquet E, Hamdi-Roze H, Paisant A, Decraecker M, Bourlière M, Ganne-Carrié N, de Lédinghen V, Bureau C. Bardou-Jacquet E, et al. Clin Res Hepatol Gastroenterol. 2022 Jan;46(1):101762. doi: 10.1016/j.clinre.2021.101762. Epub 2021 Jul 29. Clin Res Hepatol Gastroenterol. 2022. PMID: 34332132

Blood donation for iron removal in individuals with HFE mutations: study of efficacy and safety and short review on hemochromatosis and blood donation.

Infanti L, Leitner G, Moe M, Pehlic V, Cattaneo M, Benkert P, Holbro A, Passweg J, Worel N, Buser A. Infanti L, et al. Front Med (Lausanne). 2024 Mar 19;11:1362941. doi: 10.3389/fmed.2024.1362941. eCollection 2024. Front Med (Lausanne). 2024. PMID: 38566922 Free PMC article.

Hereditary hemochromatosis caused by a C282Y/H63D mutation in the HFE gene: A case report.

Li D, Li J, Zhang H, Zhu Q, Wang T, Zhao W, Zhao S, Li W. Li D, et al. Heliyon. 2024 Mar 21;10(7):e28046. doi: 10.1016/j.heliyon.2024.e28046. eCollection 2024 Apr 15. Heliyon. 2024. PMID: 38560130 Free PMC article.

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