Results 11 to 20 of about 5,659 (182)

Erythropoietic protoporphyria [PDF]

Orphanet Journal of Rare Diseases, 2009
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Puy Hervé, Lecha Mario, Deybach Jean-Charles   +2 more
doaj   +15 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   +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, Herbert L, Bonkovsky, Cynthia, Levy, Karl E, Anderson, D Montgomery, Bissell, Charles, Parker, Fumihiro, Takahashi, Robert J, Desnick, Kirstine, Belongie   +8 more
core   +6 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, Elena Cama, Maria Guglielmina Pelizzo, Maria Guglielmina Pelizzo, Enrico Tessarolo, Annamaria Nicolli, Giulia Viero, Mauro Alaibac   +7 more
doaj   +2 more sources

Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect [PDF]

Frontiers in Pediatrics
Erythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting in a decreased activity of ferrochelatase.
Patryk Lipiński, Agnieszka Lipniacka, Maja Klaudel-Dreszler, Lidia Ziółkowska, Grażyna Kostrzewa, Edyta Odnoczko, Robert Wasilewski, Rafał Płoski, Anna Tylki-Szymańska   +8 more
doaj   +2 more sources

Erythropoietic protoporphyria in a child

European Journal of Pediatrics, 1989
Erythropoietic protoporphyria (EPP), a recently described form of porphyria, often remains unrecognized. We report the case of a 7-year-old girl admitted for investigation of photosensitivity since the age of 18 months without any significant objective cutaneous lesions.
M, Piotte, A, Hassoun, A, Bourlond, G, Cornu   +3 more
openaire   +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, Balwani, M, Anderson, KE, Bonkovsky, HL, Anstey, AV, Bissell, M, Bloomer, J, Edwards, C, Neumann, NJ, Parker, C, Phillips, J, Lim, HW, Hamzavi, I, Deybach, JC, Kauppinen, R, Rhodes, LE; id_orcid 0000-0002-9107-6654, Frank, J, Murphy, GM, Karstens, FPJ, Sijbrands, EJG, de, Rooij FWM, Lebwohl, M, Naik, H, Goding, CR, Wilson, JHP, Desnick, RJ   +25 more
core   +6 more sources

Laparoscopic Cholecystectomy in a Patient with Erythropoietic Protoporphyria

Journal of Surgical Case Reports, 2010
Erythropoietic protoporphyria (EPP) is an inherited defect in haem synthesis causing dangerous phototoxic reactions following exposure to wavelengths of light around 400nm. It can cause catastrophic post-operative complications following open surgery, in
Thomas Roe, Ian S Bailey
doaj   +1 more source

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review [PDF]

Orphanet Journal of Rare Diseases
Background Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase.
Hongli Xiong, Song He, Zhaoxia Yang, Ruizao Zheng, Huihong Yu   +4 more
doaj   +2 more sources

Self‐Reported Liver Disease and the Burden of Erythropoietic Protoporphyria [PDF]

JIMD Reports
Erythropoietic 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, Kristen Wheeden, Hilary H. Colwell, Susan D. Mathias, Chelsea Norregaard, Melanie Chin, William Savage, Manisha Balwani   +7 more
doaj   +2 more sources