Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of the heme biosynthetic pathway that is characterized by uroporphyrinogen III synthase (UROS) deficiency and the accumulation of non-physiological isomer I porphyrins. These phototoxic metabolites predominantly produced by...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Metab Rep
Hauptverfasser: Blouin, Jean-Marc, Ged, Cécile, Bernardo-Seisdedos, Ganeko, Cabantous, Txomin, Pinson, Benoît, Poli, Antoine, Puy, Hervé, Millet, Oscar, Gouya, Laurent, Morice-Picard, Fanny, Richard, Emmanuel
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2021
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7890299/
https://ncbi.nlm.nih.gov/pubmed/33659185
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100722
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge