Erythropoietic protoporphyria [PDF]
Orphanet Journal of Rare Diseases, 2009 Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Puy Hervé +2 more
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Erythropoietic protoporphyria: case reports for clinical and therapeutic hints [PDF]
Italian Journal of Pediatrics, 2023 Background Erythropoietic protoporphyria is a rare disorder which represents an important health problem in children, causing painful photosensitivity. Little is known on the correlation between genetic profile and clinical manifestations.
Cristina Tumminelli +8 more
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An overview of the cutaneous porphyrias [version 1; referees: 2 approved] [PDF]
F1000Research, 2017 This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj +5 more sources
Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria [PDF]
Pharmaceuticals, 2023 Erythropoietic protoporphyria (EPP) is a genetic disorder stemming from reduced ferrochelatase expression, the final enzyme in the pathway of heme biosynthesis.
Katelyn E. Madigan +4 more
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Microcytosis in Erythropoietic Protoporphyria [PDF]
Frontiers in Physiology, 2022 Partial deficiency of the last enzyme of the heme biosynthetic pathway, namely, ferrochelatase (FECH), is responsible for erythropoietic protoporphyria (EPP) in humans.
Giovanna Graziadei +7 more
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When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome 18 deletion [PDF]
Dermatology Reports, 2023 We present a case of erythropoietic protoporphyria (EPP) in a 21-year-old man who sought medical attention in April 2022 due to diffuse edema and erythema of the hands, which he had been experiencing since childhood and occurring shortly after sun ...
Sara Rovaris +8 more
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Current trials in erythropoietic protoporphyria: are placebo controls ethical? [PDF]
Orphanet Journal of Rare Diseases, 2023 A new active substance called “dersimelagon” (MT-7117) is being tested as an alternative treatment option for Erythropoietic protoporphyria (EPP). At the moment, dersimelagon is being tested both in the US and in Europe in a phase III placebo-controlled ...
Jasmin Barman-Aksözen +2 more
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Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria [PDF]
JIMD Reports, 2019 Background Erythropoietic protoporphyria (EPP) and X‐linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life‐altering effects, tools that ...
Hetanshi Naik +10 more
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Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient [PDF]
Frontiers in EndocrinologyXeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme.
Shu-hui Wu +5 more
doaj +2 more sources
A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria [PDF]
Molecular Genetics and Metabolism Reports, 2022 The use of iron supplementation for anemia in erythropoietic protoporphyria (EPP) is controversial with both benefit and deterioration reported in single case reports. There is no systematic study to evaluate the benefits or risks of iron supplementation
Manisha Balwani +8 more
doaj +2 more sources