Results 21 to 30 of about 27,170 (181)

Advances in the management of erythropoietic protoporphyria – role of afamelanotide

The Application of Clinical Genetics, 2016
Ashley M Lane,1 Jerome T McKay,2 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology; 2Department of Microbiology and Immunology, Wake Forest University School of Medicine, Winston-Salem, NC, USAAbstract ...
Lane AM, McKay JT, Bonkovsky HL
doaj   +1 more source

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, Lecha Mario, Deybach Jean-Charles   +2 more
doaj   +2 more sources

Development and Content Validation of Novel Patient-Reported Outcome Measures to Assess Disease Severity and Change in Patients with Erythropoietic Protoporphyria: The EPP Impact Questionnaire (EPIQ)

Patient Related Outcome Measures
Susan D Mathias,1 Laurie Burke,2 Hilary H Colwell,1 George Mensing,3 Will Savage,3 Hetanshi Naik4 1Health Outcomes Solutions, Palm Beach Gardens, FL, USA; 2LORA Group, Normal, IL, USA; 3Disc Medicine, Watertown, MA, USA; 4Department of Genetics, Stanford
Mathias SD, Burke L, Colwell HH, Mensing G, Savage W, Naik H   +5 more
doaj   +3 more sources

Empowering children and young people with Erythropoietic Protoporphyria (EPP)/X-linked Erythropoietic Protoporphyria (XLP): Outcomes of attending a disease-specific residential camp

Erythropoietic Protoporphyria (EPP) and X‑linked Erythropoietic Protoporphyria (XLP) are rare photodermatoses that severely restrict children’s participation in outdoor activities and contribute to anxiety, isolation and reduced quality of life. The British Porphyria Association (BPA) Alfresco Residential camp 2024 was developed to provide a medically ...
Victoria Anne McGuire, Samuel Morrison, Georgia Newman, Sue Burrell, Claire Jarvis, Liz Gill   +5 more
openaire   +2 more sources

Correction to: 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
Following publication of the original article [1], the authors identified an error in the author name of G. Biolcati. The incorrect author name is: G. Biolcatti The correct author name is: G. Biolcati The author group has been updated above and the original article [1] has been corrected.
G. Biolcati, S. Hanneken, E. I. Minder, N. J. Neumann, J. H. P. Wilson, P. J. Wolgen, D. J. Wright, A. J. Lloyd   +7 more
openaire   +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

Letter to the Editor—Comment on “Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light‐Induced Hemolytic Threshold Assessment” [PDF]

J Dermatol
The Journal of Dermatology, Volume 53, Issue 9, Page e767-e768, September 2026.
de Rover I, Peltenburg N, Sweep J, Langendonk J.   +3 more
europepmc   +2 more sources

Current trials in erythropoietic protoporphyria: are placebo controls ethical?

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, Mattia Andreoletti, Alessandro Blasimme   +2 more
doaj   +1 more source

Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review [PDF]

Hemasphere
Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Makis A, Saougou I, Hatzimichael E.
europepmc   +2 more sources

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies. [PDF]

Br J Haematol
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Joshi G, Natarajan N, Dickerson KE, Voit RA.   +3 more
europepmc   +2 more sources