Results 81 to 90 of about 1,952 (187)

Bone marrow-derived cells promote liver regeneration in mice with erythropoietic protoporphyria [PDF]

, 2009
Background: Bone marrow transplantation can reverse hepatic protoporphyrin accumulation and prevent the hepatobiliary complications characteristic of erythropoietic protoporphyria.
M??ndez, Manuel, Bueren, Juan, Salido, Eduardo, Fontanellas, Antonio, Garc??a-Bravo, Mar??a, Mor??n-Jim??nez, Mar??a Jos??, Quintana-Bustamante, ??scar, Guti??rrez-Vera, Inmaculada, Segovia, Jos?? Carlos, Enr??quez de Salamanca, Rafael   +9 more
core   +3 more sources

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

Advances in the management of erythropoietic protoporphyria – role of afamelanotide

, 2016
Ashley M Lane,1 Jerome T McKay,2 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology; 2Department of Microbiology and Immunology, Wake Forest University School of Medicine, Winston-Salem, NC, USAAbstract ...
McKay JT, Lane AM, Bonkovsky HL
core  

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

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

Exonic deletions as a cause of erythropoietic protoporphyria

, 2006
Erythropoietic protoporphyria (EPP) is an inherited disorder that results from partial deficiency of ferrochelatase (FECH), the terminal enzyme of haem biosynthesis.
McKenna, Kevin, Badminton, Michael Norman, Wood, Lisa H., Whatley, Sharon D.   +3 more
core   +1 more source

Molecular Characterization of a Ferrochelatase Gene Defect Causing Anomalous RNA Splicing in Erythropoietic Protoporphyria

, 1994
Erythropoietic protoporphyria is an inherited disorder caused by deficient activity of the enzyme ferrochelatase. We have examined the ferrochelatase gene in an 11-year-old female with protoporphyria and have found that she is heterozygous for a mutation
Sarkany, Robert PE., Cox, Timothy M, Whitcombe, David M   +2 more
core   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Afamelanotide for treating erythropoietic protoporphyria

, 2017
The company submission (CS) presents evidence of the clinical and cost effectiveness of afamelanotide (SCENESSE®) for adult patients with erythropoietic protoporphyria (EPP) above the age of 18 years old compared to best supportive care.
Lord, Joanne, Onyimadu, Oluchukwu, Gaisford, Wendy C., Rose, Micah J., Shepherd, Jonathan, Frampton, Geoffrey   +5 more
core