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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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Kapil Kumar Garg, Hapreet Singh
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: SMC MEDIA SRL 2016-09-01
Cyfres:European Journal of Case Reports in Internal Medicine
Pynciau:
Mynediad Ar-lein:http://ejcrim.com/index.php/EJCRIM/article/view/497
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