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Management of erythropoietic protoporphyria with cholestatic liver disease: A case report
Erythropoietic protoporphyria (EPP) is a rare metabolic disease of the heme biosynthetic pathway where an enzymatic dysfunction results in protoporphyrin IX (PPIX) accumulation in erythroid cells. The porphyrins are photo-reactive and are responsible for severe photosensitivity in patients, thus dra...
Autores principales: | Poli, Antoine, Frieri, Camilla, Lefebvre, Thibaud, Delforge, Juliette, Mirmiran, Arienne, Talbi, Neila, Moulouel, Boualem, Six, Marion, Paradis, Valérie, Parquet, Nathalie, Puy, Hervé, Schmitt, Caroline, Aslangul, Elisabeth, de Fontbrune, Flore Sicre, Gouya, Laurent |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694760/ http://dx.doi.org/10.1016/j.ymgmr.2023.101018 |
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