Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice [PDF]
Disease Models & Mechanisms, 2017 Erythropoietic protoporphyria (EPP) is caused by deficiency of ferrochelatase (FECH), which incorporates iron into protoporphyrin IX (PPIX) to form heme.
Jasmin Barman-Aksözen +9 more
doaj +10 more sources
German Cohort Observational Study to Investigate the Short- and Long-Term Safety and Clinical Effectiveness of Afamelanotide 16 mg (SCENESSE) in Patients With Erythropoietic Protoporphyria (EPP) [PDF]
Photodermatology Photoimmunology and PhotomedicineABSTRACTBackgroundAfamelanotide 16 mg (SCENESSE) is the first approved treatment for erythropoietic protoporphyria (EPP). EPP is a rare autosomal recessive inherited disorder of the haem biosynthesis pathway, where patients experience severe and debilitating acute phototoxicity. It affects at least one in 140,000 of the European population.
Daniela Bruch-Gerharz, Joanna Wegner
exaly +5 more sources
Validation of a Novel Patient Reported Tool to Assess the Impact of Treatment in Erythropoietic Protoporphyria: The EPP-QoL [PDF]
Journal of Patient-Reported Outcomes, 2021 Background A novel treatment has been developed for erythropoietic protoporphyria (EPP) (a rare condition that leaves patients highly sensitive to light).
Andrew Lloyd, J H P Wilson, N J Neumann
exaly +4 more sources
Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect [PDF]
Frontiers in PediatricsErythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting in a decreased activity of ferrochelatase.
Patryk Lipiński +8 more
doaj +4 more sources
Self‐Reported Liver Disease and the Burden of Erythropoietic Protoporphyria [PDF]
JIMD ReportsErythropoietic protoporphyria (EPP) and X‐linked protoporphyria are metabolic disorders that cause skin phototoxicity and potential liver damage. We compared symptoms and impacts of phototoxic reactions, health‐related quality of life, and healthcare ...
Hetanshi Naik +7 more
doaj +3 more sources
Paternal Split‐Liver Transplantation Followed by Haploidentical Hematopoietic Cell Transplantation in an Adult Patient With Protoporphyria‐Induced Liver Failure [PDF]
eJHaemIntroduction Erythropoietic Protoporphyria (EPP) caused skin light sensitivity and liver cirrhosis in a 35‐year‐old patient who subsequently developed liver‐failure.
Ulrich Stölzel +12 more
doaj +3 more sources
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
doaj +2 more sources
Diagnosis and Treatment of Icteric Hepatitis Caused by Erythropoietic Protoporphyria: A Case Report
Liver Research, 2022 Erythropoietic protoporphyria (EPP) is a rare inherited disease caused by partial deficiency activity of the enzyme ferrochelatase (FECH), resulting in excessive accumulation of protoporphyrin IX in erythrocyte and tissues. Here, we report a patient with
Xin-Hua Li, Shuru Chen, Leiqin Cai
exaly +3 more sources
Impact of Delay in Diagnosis in Patients With Erythropoietic Protoporphyria: A Cross-Sectional Survey Study [PDF]
JAAD InternationalHetanshi Naik +2 more
exaly +4 more sources
Genetic testing to distinguish X-linked protoporphyria from erythropoietic protoporphyria informed iron replacement therapy leading to reversal of severe protoporphyric hepatopathy [PDF]
Molecular Genetics and Metabolism ReportsErythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are cutaneous porphyrias characterized by excess protoporphyrin IX (PPIX), leading to photosensitivity and, in a minority of patients, progressive hepatobiliary injury.
Christopher D. Ma +3 more
doaj +2 more sources