Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Browse by All Cardiff Authors

[up] Up a level
Number of items: 6.

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

This list was generated on Sat Apr 26 08:09:56 2025 BST.


Maintained by Cardiff University Information Services