An Atypical Case of Congenital Erythropoietic Porphyria

Congenital erythropoietic porphyria (CEP, OMIM #606938) is a severe autosomal recessive inborn error of heme biosynthesis. This rare panethnic disease is due to a deficiency of uroporphyrinogen III synthase (or cosynthase). Subsequently, its substrate, the hydroxymethylbilane is subsequently convert...

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Detalles Bibliográficos
Autores principales: Sudrié-Arnaud, Bénédicte, Legendre, Marine, Snanoudj, Sarah, Pelluard, Fanny, Bekri, Soumeya, Tebani, Abdellah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620571/
https://www.ncbi.nlm.nih.gov/pubmed/34828434
http://dx.doi.org/10.3390/genes12111828

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620571/
https://www.ncbi.nlm.nih.gov/pubmed/34828434
http://dx.doi.org/10.3390/genes12111828

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