Results 21 to 30 of about 1,952 (187)

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

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

Afamelanotide for Treatment of the Protoporphyrias: Impact on Quality of Life and Laboratory Parameters in a US Cohort [PDF]

Life
Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity.
Rebecca K. Leaf, Hetanshi Naik, Paul Y. Jiang, Sarina B. Elmariah, Pamela Hodges, Jennifer Mead, John Trinidad, Behnam Saberi, Benny Tran, Sarah Valiante, Francesca Mernick, David E. Leaf, Karl E. Anderson, Amy K. Dickey   +13 more
doaj   +2 more sources

Erythropoietic protoporphyria and early onset of cholestasis

The Turkish Journal of Pediatrics, 2012
Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity.
Mani Jeh Khalili, Fatemeh Farahmand, Armin Hirbod-Mobarakeh, Azizollah Yousefi, Soheila Sotoudeh, Maryam Monajemzadeh, Anahita Razaghian, Nima Rezaei   +7 more
doaj   +2 more sources

The GLYT1 inhibitor bitopertin mitigates erythroid PPIX production and liver disease in erythroid protoporphyria [PDF]

The Journal of Clinical Investigation
Erythropoietic protoporphyria (EPP) is a genetic disorder typically resulting from decreased ferrochelatase (FECH) activity, the last enzyme in heme biosynthesis.
Sarah Ducamp, Min Wu, Juan Putra, Dean R. Campagna, Yi Xiang, Vu Hong, Matthew M. Heeney, Amy K. Dickey, Rebecca K. Leaf, Mark D. Fleming, Brian MacDonald, Paul J. Schmidt   +11 more
doaj   +2 more sources

Cord blood porphyrin analysis in neonates at risk of inheriting protoporphyria: An observational cohort study. [PDF]

Br J Haematol
British Journal of Haematology, Volume 207, Issue 3, Page 1148-1151, September 2025.
Schulenburg-Brand D, Peek R, Bentley L, Swingler R, Pavlova YT, Dawe RS, McGuire VA.   +6 more
europepmc   +2 more sources

Inhibition of ABCG2 prevents phototoxicity in a mouse model of erythropoietic protoporphyria [PDF]

Nature Communications
Erythropoietic protoporphyria (EPP) is a genetic disease characterized by protoporphyrin IX-mediated painful phototoxicity. Currently, options for the management of EPP-associated phototoxicity are limited and no oral medication is available.
Junjie Zhu, Fu-Ying Qin, Saifei Lei, Ruizhi Gu, Qian Qi, Jie Lu, Karl E. Anderson, Peter Wipf, Xiaochao Ma   +8 more
doaj   +2 more sources

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

JAAD Case Reports
Anna-Elisabeth Minder, MD, Jasmin Barman-Aksözen, PhD   +1 more
doaj   +2 more sources

Erythropoietic protoporphyria

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

When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome 18 deletion

Dermatology Reports, 2023
We present a case of erythropoietic protoporphyria (EPP) in a 21-year-old man who sought medical attention in April 2022 due to diffuse edema and erythema of the hands, which he had been experiencing since childhood and occurring shortly after sun ...
Sara Rovaris, Giuseppe La Rosa, Sara Mezzana, Francesco Tonon, Luigi Mori, Eugenio Monti, Giuseppe Mazzeo, Piergiacomo Calzavara-Pinton, Mariachiara Arisi   +8 more
doaj   +1 more source