Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: corneal perforation; erythropoietic porphyria; lagophthalmos induced; congenital erythropoietic ... See more keywords
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx067
Abstract: Congenital erythropoietic porphyria (CEP) is an inborn error of heme biosynthesis characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in deleterious porphyrin accumulation in blood cells responsible for hemolytic anemia and cutaneous photosensitivity. We analyzed… read more here.
Keywords: protein; homeostasis; proteasome inhibition; erythropoietic porphyria ... See more keywords
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria
Sign Up to like & getrecommendations! Published in 2018 at "Science Translational Medicine"
DOI: 10.1126/scitranslmed.aat7467
Abstract: The off-patent marketed antifungal ciclopirox improves symptoms in a mouse model of congenital erythropoietic porphyria. Drug repurposing helps iron out porphyria Porphyria is an inherited incurable disorder resulting from the buildup of heme precursors throughout… read more here.
Keywords: disease; model congenital; congenital erythropoietic; erythropoietic porphyria ... See more keywords
Congenital Erythropoietic Porphyria: A Rare Case of Photosensitivity with Hemolytic Anaemia and Mental Retardation.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the College of Physicians and Surgeons--Pakistan : JCPSP"
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
Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.
Sign Up to like & getrecommendations! Published in 2020 at "Haematologica"
DOI: 10.3324/haematol.2019.228270
Abstract: Congenital erythropoietic porphyria (CEP, MIM 263700) is a rare autosomal recessive disease caused by impaired activity of uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthetic pathway. Accumulation of porphyrins in red blood… read more here.
Keywords: treatment; hemolysis; erythropoietic porphyria; congenital erythropoietic ... See more keywords
Improving the Pharmacological Properties of Ciclopirox for Its Use in Congenital Erythropoietic Porphyria
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm11060485
Abstract: Congenital erythropoietic porphyria (CEP), also known as Günther’s disease, results from a deficient activity in the fourth enzyme, uroporphyrinogen III synthase (UROIIIS), of the heme pathway. Ciclopirox (CPX) is an off-label drug, topically prescribed as… read more here.
Keywords: cep; improving pharmacological; erythropoietic porphyria; congenital erythropoietic ... See more keywords