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...
Enregistré dans:
| Auteurs principaux: | , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
MDPI AG
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/a4d4b912c8f94bc299563a6021388e7b |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|