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A Case of Congenital Erythropoietic Porphyria without Haemolysis

Porphyrias are a group of disorders caused by enzymatic defects in the biosynthesis of haem. Congenital erythropoietic porphyria (CEP) or Günther’s disease is an extremely rare autosomal recessive disorder. Clinical manifestations include onset in infancy of blistering of sun-exposed areas, atrophic...

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Detalles Bibliográficos
Autores principales: Garg, Kapil Kumar, Singh, Harpreet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SMC Media Srl 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346771/
https://www.ncbi.nlm.nih.gov/pubmed/30755899
http://dx.doi.org/10.12890/2016_000497