Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited disorders resulting from defects in two different enzymes of the heme biosynthetic pathway, i.e., ferrochelatase (FECH) and delta-aminolevulinic acid synthase-2 (ALAS2), respectively. The ubiquitous FECH catalyzes th...

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Detalles Bibliográficos
Autores principales: Di Pierro, Elena, Granata, Francesca, De Canio, Michele, Rossi, Mariateresa, Ricci, Andrea, Marcacci, Matteo, De Luca, Giacomo, Sarno, Luisa, Barbieri, Luca, Ventura, Paolo, Graziadei, Giovanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775248/
https://www.ncbi.nlm.nih.gov/pubmed/35054318
http://dx.doi.org/10.3390/diagnostics12010151

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775248/
https://www.ncbi.nlm.nih.gov/pubmed/35054318
http://dx.doi.org/10.3390/diagnostics12010151

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