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Published in 2023 at "Orbit"
DOI: 10.1080/01676830.2023.2169718
Abstract: Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder in which the activity of uroporphyrinogen III synthase (UROS) is decreased. This results in the accumulation of photoreactive porphyrinogens, primarily in the skin and bone…
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Keywords:
corneal perforation;
erythropoietic porphyria;
lagophthalmos induced;
congenital erythropoietic ... See more keywords