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Number of items: 16.

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

Badminton, Michael Norman and Elder, George H. 2011. Porphyrias. In: Wass, John A. H. and Stewart, Paul M. eds. Oxford Textbook of Endocrinology and Diabetes. 2nd ed., Oxford: Oxford University Press, pp. 1694-1700.

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

Whatley, Sharon D., Mason, Nicola G., Holme, S. Alexander, Anstey, Alexander Vincent, 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

Whatley, Sharon D., Mason, Nicola G., Woolf, Jacqueline, Newcombe, Robert Gordon, 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

Holme, S. Alexander, Whatley, Sharon D., Roberts, Andrew Glyn, Anstey, Alexander Vincent, 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

Badminton, Michael Norman and Elder, George H. 2009. Inherited disorders of haem synthesis: the human porphyrias. In: Warren, Martin J. and Smith, Alison G. eds. Tetrapyrroles: birth, life, and death, Molecular biology intelligence unit, Austin, Texas: Landes Bioscience, pp. 89-100.

Holme, S.Alexander, Anstey, Alexander Vincent, 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

Whatley, Sharon D., Ducamp, Sarah, Gouya, Laurent, Grandchamp, Bernard, Beaumont, Carole, Badminton, Michael Norman, Elder, George H., Holme, S. Alexander, Anstey, Alexander Vincent, 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

Badminton, Michael Norman and Elder, George H. 2008. The porphyrias: inherited disorders of haem synthesis. In: Marshall, William J. and Bangert, Stephen K. eds. Clinical biochemistry: metabolic and clinical aspects. 2nd ed, Edinburgh: Churchill Livingstone Elsevier, pp. 558-577.

Holme, S. Alexander, Anstey, Alexander Vincent, 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

Whatley, Sharon D., Mason, Nicola G., Holme, S. Alexander, Anstey, Alex Vincent, 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

Holme, S. Alexander, Anstey, Alexander Vincent, Finlay, Andrew Yule, Elder, George H. and Badminton, Michael Norman 2006. Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. British Journal of Dermatology 155 (3) , pp. 574-581. 10.1111/j.1365-2133.2006.07472.x

Goodwin, Richard G., Kell, W. Jonathan, Laidler, Peter, Long, Colin C., Whatley, Sharon D., McKinley, Mark, Badminton, Michael Norman, Burnett, Alan Kenneth, Williams, Geraint Trefor and Elder, George H. 2006. Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells. Blood 107 (1) , pp. 60-62. 10.1182/blood-2004-12-4939

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

Badminton, Michael Norman and Elder, George H. 2002. Management of acute and cutaneous porphyrias. International Journal of Clinical Practice 56 (4) , pp. 272-278.

This list was generated on Thu Oct 17 05:03:25 2019 BST.