Results 81 to 90 of about 3,099 (193)

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

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations [PDF]

, 2017
Dominant mutations in the gene encoding the ubiquitously-expressed splicing factor PRPF31 cause retinitis pigmentosa, a form of hereditary retinal degeneration, with reduced penetrance.
Beckmann, Jacques S., Civic, Natacha, Frio, Thomas Rio, Ransijn, Adriana, Rivolta, Carlo   +4 more
core  

Paternal Split‐Liver Transplantation Followed by Haploidentical Hematopoietic Cell Transplantation in an Adult Patient With Protoporphyria‐Induced Liver Failure

eJHaem, Volume 6, Issue 1, February 2025.
ABSTRACT Introduction Erythropoietic Protoporphyria (EPP) caused skin light sensitivity and liver cirrhosis in a 35‐year‐old patient who subsequently developed liver‐failure. Methods In absence of a human leukocyte antigens (HLA)‐matched‐unrelated donor, the father consented in donating for split liver transplantation (SLT) and allogeneic hematopoietic
Ulrich Stölzel, Lasse Jost, Daniel Seehofer, Katharina Egger‐Heidrich, Uwe Scheuermann, Kristina Hölig, Thomas Stauch, Desiree Kunadt, Detlef Schuppan, Johannes Schetelig, Nils Wohmann, Martin Bornhäuser, Friedrich Stölzel   +12 more
wiley   +1 more source

A family with acute intermittent porphyria [PDF]

, 2008
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms.
Billoo, Abdul Gaffar, Lone, Saira Waqar
core   +1 more source

Erythropoietic protoporphyria without skin symptoms-you do not always see what they feel [PDF]

, 2007
Erythropoietic protoporphyria (EPP) is an inherited disorder of the porphyrin metabolism that often remains undiagnosed in children. We report on a 4-year-old girl who had been suffering for 1 year from recurrent painful crises affecting her hands, feet,
AF Goeij De, AL Labrousse, Anne L. Y. Lecluse, BD Goldstein, EA Ryan, ES Peterka, FG Schnait, GA Krekels, GK Patel, GM Murphey, GM Murphey, Huib van Weelden, HW Lim, Ingrid M. Russel, JH Epstein, JM Mascaro, Jorge Frank, JT Rector, K Timonen, L Gouya, L Gouya, M Frank, M Piotte, MK Mather, MM Mathews-Roth, R Alemzadeh, RD Burr, S Ozasa, S Sandberg, SA Varma, SD Whatley, Suzanne G. M. A. Pasmans, U Gross, VA DeLeo, Veronica C. M. Kuck-Koot, Vigfus Sigurdsson, W Torinuku, X Schneider-Yin, Y Sasai   +38 more
core   +3 more sources

A precursor‐inducible zebrafish model of acute protoporphyria with hepatic protein aggregation and multiorganelle stress [PDF]

, 2016
Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/154358/1/fsb2030005012 ...
Elenbaas, Jared S., Hoenerhoff, Mark J., Lentz, Stephen I., Liu, Yang, Maitra, Dhiman, Nelson, Bradley, Omary, M. Bishr, Shavit, Jordan A.   +7 more
core   +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

Identification of products from canthaxanthin oxidation [PDF]

, 2016
John C. Walton and Raphael C. Mordi acknowledge the financial support of EaStCHEM.Canthaxanthin is a carotenoid that lacks pro-vitamin A activity but is known to have antioxidant activity.
Mordi, Raphael C., Walton, John Christopher   +1 more
core   +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