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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....

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Detalles Bibliográficos
Autores principales: Khan, Javeriah, Hashmi, Muhammad Usman, Noor, Nabeeha, Khan, Ahmad Jamal, Shrateh, Oadi N., Tahir, Muhammad Junaid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
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