Results 21 to 30 of about 1,365 (154)

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

Erythropoietic protoporphyria

Acta Dermato-Venereologica, 1971
No abstract ...
G, Hovding, O I, Haavelsrud, N, Wad
openaire   +4 more sources

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

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., Lerche, Catharina M., Wulf, Hans Christian   +2 more
openaire   +4 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, Barry H. Paw, Jacky Chung   +2 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

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, Herbert L, Bonkovsky, Cynthia, Levy, Karl E, Anderson, D Montgomery, Bissell, Charles, Parker, Fumihiro, Takahashi, Robert J, Desnick, Kirstine, Belongie   +8 more
openaire   +5 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

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

Photodermatoses in Children [PDF]

JDVI (Journal of General Procedural Dermatology & Venereology Indonesia), 2017
Photodermatoses cover the skin’s abnormal reactions to sunlight, usually to its ultraviolet (UV) component or visible light. Etiologically, photodermatoses can be classified into 4 categories: (1) immunologically mediated photodermatoses (idiopathic ...
Siti Nurani Fauziah, Wresti Indriatmi, Lili Legiawati   +2 more
doaj   +1 more source