Results 51 to 60 of about 601 (148)
Photodermatology, Photoimmunology &Photomedicine, Volume 41, Issue 4, July 2025.ABSTRACT Background/Objectives Individuals with photosensitivity diseases, including porphyria, face significant challenges in managing their condition due to heightened sensitivity to ultraviolet (UV) and visible light. Comprehensive photoprotection strategies are essential and prioritize environmental modifications, behavioral adjustments, protective
David Bajek +4 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2020 Background Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light.
Jasmin Barman-Aksözen +3 more
doaj +1 more source
Medicine Access @ Point of Care, 2019 Patient representation during the evaluation of medicines by key decision makers such as regulatory agencies, Health Technology Assessment bodies, and healthcare payers is increasingly considered to add value to the appraisals and empowers patients ...
Jasmin Barman-Aksözen
doaj +1 more source
Liver transplantation and primary liver cancer in porphyria
Liver International, Volume 45, Issue 3, March 2025.Abstract The porphyrias are a heterogeneous group of metabolic disorders that result from defects in heme synthesis. The metabolic defects are present in all cells, but symptoms are mainly cutaneous or related to neuropathy. The porphyrias are highly relevant to hepatologists since patients can present with symptoms and complications that require liver
Mattias Lissing +2 more
wiley +1 more source
Erythropoietic protoporphyria and early onset of cholestasis
The Turkish Journal of Pediatrics, 2012 Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity.
Mani Jeh Khalili +7 more
doaj
Pharmacology Research &Perspectives, Volume 13, Issue 1, February 2025.ABSTRACT Dersimelagon is a novel investigational orally administered selective agonist of the melanocortin‐1 receptor. The drug–drug interaction (DDI) potential of dersimelagon was investigated in both nonclinical (in vitro) and clinical studies. The in vitro inhibition of CYP/UGT isoforms and efflux/uptake transporters by dersimelagon was assessed ...
Akihito Ogasawara +4 more
wiley +1 more source
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
doaj +1 more source
Protective Action of Antioxidants on Hepatic Damage Induced by Griseofulvin
The Scientific World Journal, 2014 Erythropoietic protoporphyria (EPP) is a disease associated with ferrochelatase deficiency and characterized by the accumulation of protoporphyrin IX (PROTO IX) in erythrocytes, liver, and skin.
M. del C. Martinez +3 more
doaj +1 more source
Feasibility of cellular bioenergetics as a biomarker in porphyria patients
Molecular Genetics and Metabolism Reports, 2019 Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress.
Balu Chacko +6 more
doaj +1 more source