Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met)

Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 14-year-old girl with red urine since infancy, progressive blistering and scarring of the skin, and...

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Detalles Bibliográficos
Autores principales: Gucev, Zoran, Slavevska, Nevenka, Tasic, Velibor, Laban, Nevenka, Pop-Jordanova, Nada, Danilovski, Dragan, Woolf, Jacqueline, Cole, Duncan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214312/
https://www.ncbi.nlm.nih.gov/pubmed/22090724
http://dx.doi.org/10.4103/0971-6866.86199

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3214312/
https://www.ncbi.nlm.nih.gov/pubmed/22090724
http://dx.doi.org/10.4103/0971-6866.86199

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