Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met)
Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 14-year-old girl with red urine since infancy, progressive blistering and scarring of the skin, and...
| Main Authors: | , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Medknow Publications
2011
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214312/ |