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The incidence of inherited porphyrias in Europe.
Elder G, Harper P, Badminton M, Sandberg S, Deybach JC. Elder G, et al. J Inherit Metab Dis. 2013 Sep;36(5):849-57. doi: 10.1007/s10545-012-9544-4. Epub 2012 Nov 1. J Inherit Metab Dis. 2013. PMID: 23114748
UK experience of liver transplantation for erythropoietic protoporphyria.
Dowman JK, Gunson BK, Mirza DF, Badminton MN, Newsome PN; UK Liver Selection and Allocation Working Party. Dowman JK, et al. J Inherit Metab Dis. 2011 Apr;34(2):539-45. doi: 10.1007/s10545-010-9272-6. Epub 2011 Feb 8. J Inherit Metab Dis. 2011. PMID: 21301964 Free PMC article.
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
Whatley SD, Mason NG, Holme SA, Anstey AV, Elder GH, Badminton MN. Whatley SD, et al. J Invest Dermatol. 2007 Dec;127(12):2790-4. doi: 10.1038/sj.jid.5700924. Epub 2007 Jun 28. J Invest Dermatol. 2007. PMID: 17597821
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. Whatley SD, et al. Clin Chem. 2009 Jul;55(7):1406-14. doi: 10.1373/clinchem.2008.122564. Epub 2009 May 21. Clin Chem. 2009. PMID: 19460837
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
Holme SA, Whatley SD, Roberts AG, Anstey AV, Elder GH, Ead RD, Stewart MF, Farr PM, Lewis HM, Davies N, White MI, Ackroyd RS, Badminton MN. Holme SA, et al. J Invest Dermatol. 2009 Mar;129(3):599-605. doi: 10.1038/jid.2008.272. Epub 2008 Sep 11. J Invest Dermatol. 2009. PMID: 18787536
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H. Whatley SD, et al. Am J Hum Genet. 2008 Sep;83(3):408-14. doi: 10.1016/j.ajhg.2008.08.003. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18760763 Free PMC article.
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria.
Holme SA, Worwood M, Anstey AV, Elder GH, Badminton MN. Holme SA, et al. Blood. 2007 Dec 1;110(12):4108-10. doi: 10.1182/blood-2007-04-088120. Epub 2007 Sep 5. Blood. 2007. PMID: 17804693 Clinical Trial.
Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells.
Goodwin RG, Kell WJ, Laidler P, Long CC, Whatley SD, McKinley M, Badminton MN, Burnett AK, Williams GT, Elder GH. Goodwin RG, et al. Blood. 2006 Jan 1;107(1):60-2. doi: 10.1182/blood-2004-12-4939. Epub 2005 Sep 8. Blood. 2006. PMID: 16150949
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