| Badminton, Michael N., Anderson, Karl E., Deybach, Jean‐Charles, Harper, Pauline, Sandberg, Sverre and Elder, George H. 2025. From chemistry to genomics: A concise history of the porphyrias. Liver International 44 (9) , pp. 2144-2155. 10.1111/liv.15960 |
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| Aarsand, Aasne K., Villanger, J. H., Stole, Egil, Deybach, Jean-Charles, Marsden, Joanne, To-Figueras, Jordi, Badminton, Michael Norman, Elder, George H. and Sandberg, Sverre 2011. European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program. Clinical Chemistry 57 (11) , pp. 1514-1523. 10.1373/clinchem.2011.170357 |
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| Badminton, Michael Norman and Elder, George H. 2011. Porphyrias. Wass, John A. H. and Stewart, Paul M., eds. Oxford Textbook of Endocrinology and Diabetes. 2nd ed., Oxford: Oxford University Press, pp. 1694-1700. |
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| Sarkany, Robert P. E., Ibbotson, Sally H., Whatley, Sharon D., Lawrence, Clifford M., Gover, Pamela, Mufti, Ghulam J., Murphy, Gillian M., Masters, Gillian S., Badminton, Michael Norman and Elder, George H. 2011. Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria [Letter]. Journal of Investigative Dermatology 131 (5) , pp. 1172-1175. 10.1038/jid.2011.5 |
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Whatley, Sharon D., Mason, Nicola G., Holme, S. Alexander, Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Elder, George H. and Badminton, Michael Norman
2010.
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
British Journal of Dermatology
162
(3)
, pp. 642-646.
10.1111/j.1365-2133.2010.09631.x
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Whatley, Sharon D., Mason, Nicola G., Woolf, Jacqueline ORCID: https://orcid.org/0000-0002-3009-9270, Newcombe, Robert Gordon ORCID: https://orcid.org/0000-0003-4400-8867, Elder, George H. and Badminton, Michael Norman
2009.
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene.
Clinical Chemistry
55
(7)
, pp. 1406-1414.
10.1373/clinchem.2008.122564
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Holme, S. Alexander, Whatley, Sharon D., Roberts, Andrew Glyn, Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Elder, George H., Ead, Russell D., Stewart, M. Felicity, Farr, Peter M., Lewis, Helen M., Davies, Nicholas, White, Marion I., Ackroyd, R. Simon and Badminton, Michael Norman
2009.
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
Journal of Investigative Dermatology
129
(3)
, pp. 599-605.
10.1038/jid.2008.272
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| Badminton, Michael Norman and Elder, George H. 2009. Inherited disorders of haem synthesis: the human porphyrias. Warren, Martin J. and Smith, Alison G., eds. Tetrapyrroles: birth, life, and death, Molecular biology intelligence unit, Austin, Texas: Landes Bioscience, pp. 89-100. |
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Holme, S.Alexander, Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Whatley, Sharon D., Elder, George H. and Badminton, Michael Norman
2009.
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma - reply [Letter].
British Journal of Dermatology
161
(4)
, pp. 966-967.
10.1111/j.1365-2133.2009.09407.x
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Whatley, Sharon D., Ducamp, Sarah, Gouya, Laurent, Grandchamp, Bernard, Beaumont, Carole, Badminton, Michael Norman, Elder, George H., Holme, S. Alexander, Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Parker, Michelle, Corrigall, Anne V., Meissner, Peter N., Hift, Richard J., Marsden, Joanne T., Ma, Yun, Mieli-Vergani, Giorgina, Deybach, Jean-Charles and Puy, Hervé
2008.
C-Terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
American Journal of Human Genetics
83
(3)
, pp. 408-414.
10.1016/j.ajhg.2008.08.003
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| Badminton, Michael Norman and Elder, George H. 2008. The porphyrias: inherited disorders of haem synthesis. Marshall, William J. and Bangert, Stephen K., eds. Clinical biochemistry: metabolic and clinical aspects. 2nd ed, Edinburgh: Churchill Livingstone Elsevier, pp. 558-577. |
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Holme, S. Alexander, Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Badminton, Michael Norman and Elder, George H.
2008.
Serum 25-hydroxyvitamin D in erythropoietic protoporphyria.
British Journal of Dermatology
159
(1)
, pp. 211-213.
10.1111/j.1365-2133.2008.08616.x
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Whatley, Sharon D., Mason, Nicola G., Holme, S. Alexander, Anstey, Alex Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Elder, George Hill and Badminton, Michael Norman
2007.
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
Journal of Investigative Dermatology
Advanc
, pp. 1-5.
10.1038/sj.jid.5700924
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| Whatley, Sharon D., Mason, Nicola G., Khan, M., Zamiri, M., Badminton, Michael Norman, Missaoui, W. N., Dailey, T. A., Dailey, H. A., Douglas, W. S., Wainwright, N. J. and Elder, George H. 2004. Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease. Journal of Medical Genetics 41 (8) , e105. 10.1136/jmg.2003.016121 |
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| Badminton, Michael Norman and Elder, George H. 2002. Management of acute and cutaneous porphyrias. International Journal of Clinical Practice 56 (4) , pp. 272-278. |
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