Results 21 to 30 of about 1,371 (158)

Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient. [PDF]

Front Endocrinol (Lausanne)
Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme.
Wu SH, Xiao T, Zhao D, Zeng YH, Zhu MF.
europepmc   +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

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

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

Long-term iron supplementation in four patients with X-linked erythropoietic protoporphyria: associations with serum proteins and erythrocyte protoporphyrin levels-a single-centre retrospective study. [PDF]

Front Mol Biosci
IntroductionX-linked erythropoietic protoporphyria (XLEPP) is an ultra-rare inborn error of the heme biosynthesis characterised by the accumulation of large amounts of protoporphyrin IX (PPIX) and zinc-protoporphyrin in the erythrocytes. PPIX absorbs the
Minder AE, Granata F, van Breemen F, Schneider-Yin X, Minder EI, Saleh L, Barman-Aksözen J.   +6 more
europepmc   +2 more sources

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

From darkness to light: Case report on afamelanotide-treatment in a 9-year-old child with erythropoietic protoporphyria. [PDF]

JAAD Case Rep
Minder AE, Barman-Aksözen J.
europepmc   +2 more sources