Congenital erythropoietic porphyria
Congenital erythropoietic porphyria (CEP), or “Günther disease”, is a rare variant of porphyria. It is an autosomal recessive disease caused by deficient uroporphyrinogen III synthase (URO-III-synthase), the fourth enzyme in the heme biosynthetic pathway. We herein report a case of a man with the ty...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2012-06-01
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| Series: | Dermatologica Sinica |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1027811711000917 |