Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient

Congenital erythropoietic porphyria (CEP) arises from an autosomal recessive inherited disorder of the porphyrin metabolism, which leads to the accumulation of uroporphyrinogen I in bone marrow, skin and several other tissues by a deficiency of uroporphyrinogen III cosynthase (UROS). We studied a Vi...

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Detalles Bibliográficos
Autores principales: Thien Kim, Dao Hoang, Kawazoe, Asako, Bang, Pham Dang, Thanh, Nguyen Tien, Taketani, Shigeru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2013
Materias:
Published online: March, 2013
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3635963/
https://www.ncbi.nlm.nih.gov/pubmed/23626549
http://dx.doi.org/10.1159/000350679

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3635963/
https://www.ncbi.nlm.nih.gov/pubmed/23626549
http://dx.doi.org/10.1159/000350679

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