Results 1 to 10 of about 601 (148)

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 Photomedicine
ABSTRACT Background Afamelanotide 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.
Homey B, Schelonke K, Schlegel CM, Bruch-Gerharz D, Weller K, Kiefer L, Stölzel U, Staubach-Renz P, Wegner J, Keller-Melchior R, Walker G, Bochno M, Bilbao P.   +12 more
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, N J Neumann
exaly   +4 more sources

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, Paulina C´wiek, Vijay B. Bansode, Frank Koentgen, Judith Trüb, Pawel Pelczar, Paolo Cinelli, Xiaoye Schneider-Yin, Daniel Schümperli, Elisabeth I. Minder   +9 more
doaj   +7 more sources

Self‐Reported Liver Disease and the Burden of Erythropoietic Protoporphyria [PDF]

JIMD Reports
Erythropoietic 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, Kristen Wheeden, Hilary H. Colwell, Susan D. Mathias, Chelsea Norregaard, Melanie Chin, William Savage, Manisha Balwani   +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]

eJHaem
Introduction Erythropoietic Protoporphyria (EPP) caused skin light sensitivity and liver cirrhosis in a 35‐year‐old patient who subsequently developed liver‐failure.
Ulrich Stölzel, Lasse Jost, Daniel Seehofer, Katharina Egger‐Heidrich, Uwe Scheuermann, Kristina Hölig, Thomas Stauch, Desiree Kunadt, Detlef Schuppan, Johannes Schetelig, Nils Wohmann, Martin Bornhäuser, Friedrich Stölzel   +12 more
doaj   +3 more sources

Impact of delay in diagnosis in patients with erythropoietic protoporphyria: A cross-sectional survey study [PDF]

JAAD International
Karl Anderson, Amy Dickey, Sarina B Elmariah   +2 more
exaly   +4 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

Cord blood porphyrin analysis in neonates at risk of inheriting protoporphyria: An observational cohort study. [PDF]

Br J Haematol
British Journal of Haematology, Volume 207, Issue 3, Page 1148-1151, September 2025.
Schulenburg-Brand D, Peek R, Bentley L, Swingler R, Pavlova YT, Dawe RS, McGuire VA.   +6 more
europepmc   +2 more sources

Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect [PDF]

Frontiers in Pediatrics
Erythropoietic 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, Agnieszka Lipniacka, Maja Klaudel-Dreszler, Lidia Ziółkowska, Grażyna Kostrzewa, Edyta Odnoczko, Robert Wasilewski, Rafał Płoski, Anna Tylki-Szymańska   +8 more
doaj   +2 more sources

Validation of the sunlight exposure diary and the erythropoietic protoporphyria impact questionnaire (EPIQ) [PDF]

Orphanet Journal of Rare Diseases
Background Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders that can negatively affect one’s health-related quality of life (HRQoL) because of pain from phototoxic reactions and the avoidance of sun exposure that ...
Hetanshi Naik, Susan D. Mathias, Michelle P. Turner, Megan O’Grady, Chelsea Norregaard, Hilary H. Colwell, William Savage, Melanie Chin   +7 more
doaj   +2 more sources