Oral charcoal therapy of congenital erythropoietic porphyria
β Scribed by Peter V. Tishler
- Publisher
- John Wiley and Sons
- Year
- 1988
- Tongue
- English
- Weight
- 263 KB
- Volume
- 8
- Category
- Article
- ISSN
- 0270-9139
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π SIMILAR VOLUMES
## Abstract ## Background Congenital erythropoietic porphyria (CEP) is a severe autosomal recessive disorder characterized by a deficiency in uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthetic pathway. We recently demonstrated the definitive cure of a murine model of
## Congenital erythropoietic porphyria (CEP) or Gt~nther's disease is an inborn error of heme biosynthesis transmitted as an autosomal recessive trait and characterized by a profound deficiency of uroporphyrinogen III synthase (UROIIIS) activity. We have previously described two missense mutations