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...

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Bibliografische gegevens
Gepubliceerd in:Mol Genet Metab Rep
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2021
Onderwerpen:
Case Report
Online toegang: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
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