Results 71 to 80 of about 1,371 (158)

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

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

Life (Basel)
Background: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders of heme biosynthesis characterized by severe cutaneous phototoxicity.
Leaf R, Naik H, Jiang P, Elmariah S, Hodges P, Mead J, Trinidad J, Saberi B, Tran B, Valiante S, Mernick F, Leaf D, Anderson K, Dickey A.   +13 more
europepmc   +2 more sources

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

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

Nat Commun
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.
Zhu J, Qin FY, Lei S, Gu R, Qi Q, Lu J, Anderson KE, Wipf P, Ma X.   +8 more
europepmc   +2 more sources

Publication Only

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

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  

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Molecular Medicine, 2013
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase (FECH) gene and gain-of-function ...
Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Lawrence Liu, Robert J. Desnick, The Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network   +13 more
doaj   +1 more source

Application and clinical efficacy of red blood cell therapeutic apheresis in erythropoietic protoporphyria and hereditary hemochromatosis

Zhongguo shuxue zazhi
[Objective] To explore the application and clinical efficacy of red blood cell therapeutic apheresis in erythropoietic protoporphyria (EPP) and hereditary hemochromatosis (HH).
LIU Haoqiang, ZHAO Caihan, YUAN Qing, XIE Lixia, ZOU Yong, LU Ying   +5 more
doaj   +1 more source

Erythropoietic protoporphyria patients in Slovenia.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica, 2007
There are only scarce epidemiological data on the prevalence of erythropoietic protoporphyria (EPP) in a given population. The aim of this study was to assess the prevalence of EPP within the Slovenian population.The patients were selected by routine examination of photosensitive patients and by studying hospital records.
Gorenjak, Maksimiljan, Kansky, Aleksej, Marko, Pij B., Miljković, Jovan, Povalej, Petra   +4 more
openaire   +3 more sources