Congenital Erythropoietic Porphyria: A Rare Case of Photosensitivity with Hemolytic Anaemia and Mental Retardation.
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DOI: 10.29271/jcpsp.2019.06.s23
Abstract: Congenital erythropoietic porphyria, also called Gunther's disease, is a very rare genetic autosomal recessive diseaseaffecting less than 1 per 1,000,000 children. Pathogenesis involves genetic mutation encoding uroporphyrinogen-III cosynthase which leads to accumulation of porphyrin in… read more here.
Keywords: rare case; congenital erythropoietic; photosensitivity; anaemia ... See more keywords