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Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report
BACKGROUND: Congenital erythropoietic porphyria (CEP), also known as pink tooth or Gunther disease, is a rare hereditary disorder caused by an enzyme mutation in the heme biosynthesis pathway, which leads to the accumulation of immature and non-physiological protoporphyrin rings in various tissues....
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644557/ https://www.ncbi.nlm.nih.gov/pubmed/37957719 http://dx.doi.org/10.1186/s13256-023-04204-5 |