Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient
Congenital erythropoietic porphyria (CEP) arises from an autosomal recessive inherited disorder of the porphyrin metabolism, which leads to the accumulation of uroporphyrinogen I in bone marrow, skin and several other tissues by a deficiency of uroporphyrinogen III cosynthase (UROS). We studied a Vi...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2013-03-01
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| Series: | Case Reports in Dermatology |
| Subjects: | |
| Online Access: | http://www.karger.com/Article/FullText/350679 |