Results 31 to 40 of about 1,952 (187)

A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria

Molecular Genetics and Metabolism Reports, 2022
The use of iron supplementation for anemia in erythropoietic protoporphyria (EPP) is controversial with both benefit and deterioration reported in single case reports. There is no systematic study to evaluate the benefits or risks of iron supplementation
Manisha Balwani, Hetanshi Naik, Jessica R. Overbey, Herbert L. Bonkovsky, D. Montgomery Bissell, Bruce Wang, John D. Phillips, Robert J. Desnick, Karl E. Anderson   +8 more
doaj   +1 more source

Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria. [PDF]

J Dermatol
Abstract Erythropoietic protoporphyria (EPP) and X‐linked protoporphyria (XLP) are rare genetic disorders. There are limited data regarding how these disorders are managed in real‐world settings. The aim of this study was to document the characteristics and treatment patterns among patients diagnosed with EPP or XLP in general real‐world settings in ...
Silver SM, Houghton K, Hitchens A, Ansquer VD, Ciepielewska M.   +4 more
europepmc   +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

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

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

, 2022
Supplemental Figures for "Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria" published in the Journal of the American Academy of ...
Dickey, A
core   +2 more sources

Erythropoietic Protoporphyria: You May Not Have Seen It, but It May Have Seen You [PDF]

, 2022
Erythropoietic protoporphyria is a rare skin condition that commonly presents in childhood. We report a case of a 35-year-old Hispanic male with a history of sun sensitivity, presenting with complaints of immediate burning and itching of the skin on his ...
Hsu|, Pastore, Larissa M., Hsu, Sylvia, Sun, Christina W.   +3 more
core   +1 more source

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

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

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