Results 61 to 70 of about 1,436 (153)

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +2 more sources

Recurrent hepatic flares after SARS-CoV-2 vaccination in a patient with erythropoietic protoporphyria: A case report

Rare
Erythropoietic protoporphyria (EPP) is a rare genetic disorder that can lead to liver complications in a subset of patients. We describe the case of a 36-year-old woman with genetically confirmed EPP who developed acute liver injury following the second ...
Francesca Granata, Simona Leoni, Valeria Di Stefano, Anna Ludovica Fracanzani, Giovanna Graziadei   +4 more
doaj   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria

JIMD Reports, 2019
Background Erythropoietic protoporphyria (EPP) and X‐linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life‐altering effects, tools that ...
Hetanshi Naik, Jessica R. Overbey, Robert J. Desnick, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Bruce Wang, Ashwani Singal, Manisha Balwani   +10 more
doaj   +1 more source

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

British Journal of Haematology, Volume 207, Issue 3, Page 1148-1151, September 2025.
Danja Schulenburg‐Brand, Russell Peek, Lucy Bentley, Rebecca Swingler, Yana T. Pavlova, Robert S. Dawe, Victoria A. McGuire   +6 more
wiley   +1 more source

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  

The transport of α-tocopherol and β-carotene in human blood

Journal of Lipid Research, 1976
The concentrations and distributions of major lipids (cholesterol, phospholipid, and triglyceride), tocopherol and carotenoids were determined in the plasma lipoprotein fractions (VLDL, LDL, and HDL) of (1) normal human subjects, (2) patients with ...
L K Bjornson, H J Kayden, E Miller, A N Moshell   +3 more
doaj   +1 more source

Heavy Increase in Erythrocyte Protoporphyrin IX During Treatment with Teriflunomide in a Patient with Erythropoietic Protoporphyria: A Case Report

International Journal of Translational Medicine
Background/Objectives: Patients with erythropoietic protoporphyria (EPP) have a decreased activity of the ferrochelatase enzyme which converts protoporphyrin IX (PpIX) into heme, causing PpIX to accumulate in erythrocytes.
Hans Christian Wulf, Anne L. Christiansen, Ida M. Heerfordt   +2 more
doaj   +1 more source

Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report

Reports
Background and Clinical Significance: Congenital erythropoietic porphyria (CEP), also known as Günther disease, is a rare autosomal recessive porphyria caused by a deficiency of uroporphyrinogen III synthase, leading to the accumulation of phototoxic ...
Supriya Peshin, Ehab Takrori, Kaneez S. Khan, Bilal Rahimuddin, Sanjaya K. Upadhyaya, Pintu K. Gami, Sakshi Singal   +6 more
doaj   +1 more source

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management

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   +3 more sources