Results 81 to 90 of about 5,659 (182)

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

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

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

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

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

The interrelationship between ferrochelatase and protoporphyrinogen oxidase with particular reference to porphyria variegata and erythropoietic protoporphyria [PDF]

, 1986
This thesis was undertaken to determine if there is any interrelationship between the two terminal enzymes of the haem biosynthetic pathway, protoporphyrinogen oxidase (PPO) and ferrochelatase, with particular reference to porphyria variegata (PV) and ...
Siepker, Lydia, Johanna
core  

Supplement to: Bitopertin Shows Efficacy in Patients with Erythropoietic Protoporphyria: Results from the Randomized Double-Blind, Placebo-Controlled AURORA Trial

Supplemental material to Bitopertin Shows Efficacy in Patients with Erythropoietic Protoporphyria: Results from the Randomized Double-Blind, Placebo-Controlled AURORA ...
Savage, Will
core   +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

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

Ferrochelatase gene polymorphism analysis for accurate genetic counselling in erythropoietic protoporphyria

, 2002
It has recently been shown that most cases of clinically overt erythropoietic protoporphyria (EPP) result from coinheritance of a mutated ferrochelatase gene and a commonly occurring low-expression normal variant allele.
Hawk, J L M, Mason, N G, Sarkany, R P E, Elder, G H, Morris, S D   +4 more
core   +1 more source