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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SMC Media Srl
2016
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| 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 |