Katugampola, Ruwani P., Badminton, Michael Norman, Finlay, Andrew Yule ORCID: https://orcid.org/0000-0003-2143-1646, Whatley, Sharon D., Woolf, Jacqueline ORCID: https://orcid.org/0000-0002-3009-9270, Mason, Nicola G., Deybach, J. C., Puy, H., Ged, C., de Verneuil, H., Hanneken, S., Minder, E., Schneider-Yin, X. and Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144 2012. Congenital erythropoietic porphyria: A single-observer clinical study of 29 cases. British Journal Of Dermatology 167 (4) , pp. 901-913. 10.1111/j.1365-2133.2012.11160.x |
Katugampola, Ruwani P., Anstey, Alexander Vincent ORCID: https://orcid.org/0000-0002-6345-4144, Finlay, Andrew Yule ORCID: https://orcid.org/0000-0003-2143-1646, Whatley, Sharon D., Woolf, Jacqueline ORCID: https://orcid.org/0000-0002-3009-9270, Mason, Nicola G., Deybach, J. C., Puy, H., Ged, C., de Verneuil, H., Hanneken, S., Minder, E., Schneider-Yin, X. and Badminton, Michael Norman 2012. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. British Journal Of Dermatology 167 (4) , pp. 888-900. 10.1111/j.1365-2133.2012.11154.x |
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 |
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 |
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 |
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 |