Results 61 to 70 of about 1,365 (154)

Liver transplantation and primary liver cancer in porphyria

Liver International, Volume 45, Issue 3, March 2025.
Abstract The porphyrias are a heterogeneous group of metabolic disorders that result from defects in heme synthesis. The metabolic defects are present in all cells, but symptoms are mainly cutaneous or related to neuropathy. The porphyrias are highly relevant to hepatologists since patients can present with symptoms and complications that require liver
Mattias Lissing, Bruce Wang, Staffan Wahlin   +2 more
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

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

Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria

Molecular Genetics and Metabolism Reports
Homozygous variegate porphyria (HVP) is an ultra-rare porphyria caused by biallelic pathogenic variants in PPOX. It typically presents with early childhood onset of cutaneous photosensitivity, including blistering, skin fragility, scarring, and poorly ...
Chenqing Wang, Narmene Bensaber, Lina Rebeiz, Benny Tran, Silvia Tortorelli, Kevin Kyle, Lenore K. Yalom, Akshata Moghe, Karl E. Anderson, Rebecca K. Leaf, Amy K. Yeung   +10 more
doaj   +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  

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

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +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

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