Cargando…

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria

Congenital erythropoietic porphyria (CEP), a rare form of porphyria, is caused by a defect in the heme biosynthesis pathway of the enzyme uroporphyrinogen III synthase (UROS). Uroporphyrinogen III synthase deficiency leads to an accumulation of nonphysiological porphyrins in bone marrow, red blood c...

Descripción completa

Detalles Bibliográficos
Autores principales: Desjardins, Marie-Pier, Naccache, Lamia, Hébert, Audrey, Auger, Isabelle, Teira, Pierre, Pelland-Marcotte, Marie-Claude
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10170564/
https://www.ncbi.nlm.nih.gov/pubmed/36217751
http://dx.doi.org/10.1177/00099228221128661