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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, atr...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Kapil Kumar Garg, Hapreet Singh
Format: Artigo
Sprache:Inglês
Veröffentlicht: SMC MEDIA SRL 2016-09-01
Schriftenreihe:European Journal of Case Reports in Internal Medicine
Schlagworte:
Online Zugang:http://ejcrim.com/index.php/EJCRIM/article/view/497
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