Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk
✍ Scribed by J. Ch. Deybach; B. Grandchamp; Mireille Grelier; Y. Nordmann; J. Boué; A. Boué; P. Berranger
- Publisher
- Springer
- Year
- 1980
- Tongue
- English
- Weight
- 386 KB
- Volume
- 53
- Category
- Article
- ISSN
- 0340-6717
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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
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