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A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases

✍ Scribed by R.P. Katugampola; A.V. Anstey; A.Y. Finlay; S. Whatley; J. Woolf; N. Mason; J.C. Deybach; H. Puy; C. Ged; H. de Verneuil; S. Hanneken; E. Minder; X. Schneider-Yin; M.N. Badminton

Book ID
117945796
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
524 KB
Volume
167
Category
Article
ISSN
0007-0963

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Congenital erythropoietic porphyria is a rare genetic disorder in which deficiency of uroporphyrinogen III synthase results in excessive production of Type I porphyrins. The main clinical features are severe photodestruction of the skin and haemolytic anaemia. Treatment consists of shielding from li