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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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| Publicat a: | Eur J Case Rep Intern Med |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
SMC Media Srl
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6346771/ https://ncbi.nlm.nih.gov/pubmed/30755899 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12890/2016_000497 |
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