An Atypical Case of Congenital Erythropoietic Porphyria

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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Bibliographic Details
Main Authors: Bénédicte Sudrié-Arnaud, Marine Legendre, Sarah Snanoudj, Fanny Pelluard, Soumeya Bekri, Abdellah Tebani
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Genes
Subjects:
UROS
congenital erythropoietic porphyria
Next-Generation Sequencing
hydrops fetalis
bone abnormalities
Online Access:https://www.mdpi.com/2073-4425/12/11/1828

Internet

https://www.mdpi.com/2073-4425/12/11/1828

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