Results 31 to 40 of about 5,659 (182)

Correction: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints [PDF]

Italian Journal of Pediatrics
Cristina Tumminelli, Francesca Burlo, Serena Pastore, Giovanni Maria Severini, Irene Berti, Stefano Marchini, Davide Zanon, Eleonora De Martino, Alberto Tommasini   +8 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
Hanqing Huang, Leiqin Cai, Xinhua Li, Shuru Chen   +3 more
doaj   +1 more source

Absorption, metabolism, and excretion of [14C]dersimelagon, an investigational oral selective melanocortin 1 receptor agonist, in preclinical species and healthy volunteers

Pharmacology Research & Perspectives, 2023
Dersimelagon (formerly MT‐7117) is a novel, orally administered nonpeptide small molecule selective agonist for melanocortin 1 receptor currently being investigated for the treatment of erythropoietic protoporphyria, X‐linked protoporphyria, and diffuse ...
Minoru Tsuda, Kei Ogawa, Tadashi Endou, Takahiro Goto, Yuko Ogasawara, Akihito Ogasawara   +5 more
doaj   +1 more source

Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria

, 2023
Erythropoietic protoporphyria and X-linked protoporphyria are rare genetic photodermatoses. Limited expertise with these disorders among physicians leads to diagnostic delays.
Dickey, Amy, Naik, Hetanshi, Hedstrom, Karli, Mazepa, Marshall, Kazamel, Mohamed, Balwani, Manisha, Levy, Cynthia, Raef, Haya, Leaf, Rebecca, Wang, Bruce, Rudnick, Sean, Quigley, John, Erwin, Angelika, Philpotts, Lisa, Thapar, Manish, Elmariah, Sammy, Goddu, Robert, Saberi, Behnam, Ungar, Jonathan, Beaven, Simon, Keel, Siobán   +20 more
core   +2 more sources

Erythropoietic Protoporphyria in a Japanese Population

Acta Dermato-Venereologica, 2019
Erythropoietic protoporphyria is caused by a partial deficiency of ferrochelatase, which is the last enzyme in the heme biosynthesis pathway. In a typical erythropoietic protoporphyria, photosensitivity initially appears, following the first exposure to ...
Megumi Mizawa, Teruhiko Makino, Hajime Nakano, Daisuke Sawamura, Tadamichi Shimizu   +4 more
doaj   +1 more source

The role of allogeneic stem cell transplantation in severe erythropoietic protoporphyria in adults and young adults: timing and modalities [PDF]

Hematology, Transfusion and Cell Therapy
Camilla Frieri, Antoine Poli, Marie Balsat, Flore Sicre de Fontbrune   +3 more
doaj   +2 more sources

Protection from phototoxic injury during laparoscopic surgery in patients with erythropoietic protoporphyria

, 2022
Erythropoietic protoporphyria is a hereditary defect in heme synthesis, causing protoporphyrin deposition and phototoxic reactions after exposure to light, especially at a wavelength of about 400 nm.
Mirosław Kwasny, Górski, Wojciech, Wojciech Górski, Pielaciński, Konrad, Paluszkiewicz, Piotr, Kwasny, Mirosław, Konrad Pielaciński, Piotr Paluszkiewicz   +7 more
core   +1 more source

Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria

Molecular Genetics and Metabolism Reports, 2019
Erythropoietic protoporphyria (EPP) is an autosomal recessive deficiency in heme biosynthesis due to pathogenic variants in the ferrochelatase gene (FECH). Patients present with lifelong photosensitivity and potential liver disease.
Michele C. Kieke, Jacob Klemm, Arthur Rech Tondin, Victor Alencar, Nathan Johnson, Ashley M. Driver, Thomas Lentz, Gregory J. Fischer, Diane A. Caporale, Luke J. Drury   +9 more
doaj   +1 more source

Erythropoietic protoporphyria in pregnancy

Journal of Obstetrics and Gynaecology, 2020
Erythropoietic protoporphyria (EPP) is a rare, genetic condition causing painful, non-blistering photosensitivity, usually without scarring and typically presents in childhood (Ramanujam and Anders...
Elizabeth G, Nevins, Ajith, Wijesiriwardana   +1 more
openaire   +2 more sources

An overview of the cutaneous porphyrias [version 1; referees: 2 approved]

F1000Research, 2017
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj   +1 more source