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Erythropoietic Protoporphyria and X-Linked Protoporphyria: Pathophysiology, Genetics, Clinical Manifestations, and Management
Erythropoietic Protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare, genetic photodermatoses resulting from defects in enzymes of the heme-biosynthetic pathway. EPP results from the partial deficiency of ferrochelatase, and XLP results from gain-of-function mutations in erythroid specific...
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| Pubblicato in: | Mol Genet Metab |
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| Autore principale: | |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2019
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6656624/ https://ncbi.nlm.nih.gov/pubmed/30704898 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2019.01.020 |
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