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Autor:
Michael Norman Badminton, S. Alexander Holme, Andrew G. Roberts, Alexander Vincent Anstey, M. Felicity Stewart, Nick Davies, Russell D. Ead, Marion I. White, Sharon D. Whatley, Helen M. Lewis, R. Simon Ackroyd, George H. Elder, Peter M. Farr
Publikováno v:
The Journal of investigative dermatology. 129(3)
Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH). It is characterized clinically by acute photosensitivity and, in 2% of patients, liver disease. Inheritance is usually autosom