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Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther’s disease)

✍ Scribed by A. G. Freesemann; L. K. Bhutani; K. Jacob; M. O. Doss


Publisher
Springer-Verlag
Year
1997
Tongue
English
Weight
145 KB
Volume
289
Category
Article
ISSN
0340-3696

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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