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A Case of Congenital Erythropoietic Porphyria without Hemolysis
Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Medknow Publications & Media Pvt Ltd
2013
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3778801/ https://ncbi.nlm.nih.gov/pubmed/24082206 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0019-5154.117336 |
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