Results 11 to 20 of about 1,952 (187)
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
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
doaj +2 more sources
In vitro Assessment of Solar Filters for Erythropoietic Protoporphyria in the Action Spectrum of Protoporphyrin IX [PDF]
Frontiers in Medicine, 2021 Introduction: Subjects with erythropoietic protoporphyria rely on broad-spectrum sunscreens with high sun protection factor, which is not informative on efficacy in the absorption spectrum of protoporphyrin IX, spanning visible radiation and peaking ...
Alvise Sernicola +7 more
doaj +2 more sources
The role of ClpX in erythropoietic protoporphyria
Hematology, Transfusion and Cell Therapy, 2018 Hemoglobin is an essential biological component of human physiology and its production in red blood cells relies upon proper biosynthesis of heme and globin protein.
Jared C. Whitman +2 more
doaj +2 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
Dersimelagon in Erythropoietic Protoporphyrias
New England Journal of Medicine, 2023 Erythropoietic protoporphyria and X-linked protoporphyria are inborn errors of heme biosynthesis that cause elevated circulating levels of metal-free protoporphyrin and phototoxicity. Both disorders are characterized by excruciating phototoxic attacks after exposure to visible light.
Manisha, Balwani +8 more
core +6 more sources
Cimetidine for erythropoietic protoporphyria
Photodiagnosis and Photodynamic Therapy, 2022 Erythropoietic protoporphyria (EPP) is caused by deficiency of the enzyme converting protoporphyrin IX (PpIX) into heme resulting in accumulation of PpIX; leading to photosensitivity and liver toxicity. Cimetidine might inhibit δ-aminolevulinic acid synthase influencing the heme biosynthesis.
Heerfordt, Ida M. +2 more
openaire +5 more sources
Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria [PDF]
Diagnostics, 2022 Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited disorders resulting from defects in two different enzymes of the heme biosynthetic pathway, i.e., ferrochelatase (FECH) and delta-aminolevulinic acid synthase-2 (ALAS2 ...
Elena Di Pierro +10 more
doaj +3 more sources
Afamelanotide for Erythropoietic Protoporphyria
New England Journal of Medicine, 2015 Erythropoietic protoporphyria is a severe photodermatosis that is associated with acute phototoxicity. Patients with this condition have excruciating pain and a markedly reduced quality of life. We evaluated the safety and efficacy of an α-melanocyte-stimulating hormone analogue, afamelanotide, to decrease pain and improve quality of life.We conducted ...
Langendonk, JG +25 more
openaire +5 more sources
Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria [PDF]
Life, 2023 In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX).
Anna-Elisabeth Minder +4 more
doaj +2 more sources