Results 21 to 30 of about 5,659 (182)

Neuropathy in erythropoietic protoporphyrias

Neurology, 1998
Peripheral neuropathy (PN) has rarely been described as a complication of erythropoietic protoporphyria (EPP). We describe three episodes of PN and the electrophysiologic findings in two patients with EPP. PN is seen in patients with EPP and hepatic failure and raised free erythrocyte protoporphyrin or serum protoporphyrin levels and is identical to ...
S A, Muley, H A, Midani, J M, Rank, R, Carithers, G J, Parry   +4 more
openaire   +3 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

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management [PDF]

Liver International
AbstractThe erythropoietic protoporphyrias consist of three ultra‐rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (EPP1), X‐linked protoporphyria (XLEPP) and CLPX‐protoporphyria (EPP2), which all lead to the accumulation of protoporphyrin IX (PPIX) in erythrocytes.
Anna‐Elisabeth Minder, Louisa G. Kluijver, Jasmin Barman‐Aksözen, Elisabeth I. Minder, Janneke G. Langendonk   +4 more
openaire   +4 more sources

Erythropoietic protoporphyria and early onset of cholestasis [PDF]

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   +1 more source

Erythropoietic protoporphyria

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

Letter to the Editor—Comment on “Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light‐Induced Hemolytic Threshold Assessment” [PDF]

J Dermatol
The Journal of Dermatology, Volume 53, Issue 9, Page e767-e768, September 2026.
de Rover I, Peltenburg N, Sweep J, Langendonk J.   +3 more
europepmc   +2 more sources

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, Amy, Dickey, A (via Mendeley Data)   +1 more
core   +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

Haematological parameters in erythropoietic protoporphyria: A multi-national study. [PDF]

Br J Haematol
: Erythropoietic protoporphyria (EPP) is a disorder of haem biosynthesis characterized by a reduction in ferrochelatase and subsequent accumulation of protoporphyrin IX.
Leaf RK, Ricci A, Tran B, Corradini E, Pietrangelo A, Mancini C, Garuti C, Saltini D, Schepis F, Kubisch I, Wohmann N, Stölzel U, Jiang PY, Jang S, Bensaber N, Rebeiz L, Wang C, Buzney E, Trinidad J, Anderson KE, Wahlin S, Ventura P, Dickey AK.   +22 more
europepmc   +2 more sources

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