Results 61 to 70 of about 1,952 (187)

Haplotype Analysis of Families with Erythropoietic Protoporphyria and Novel Mutations of the Ferrochelatase Gene

, 1999
Ferrochelatase, the enzyme that catalyzes the terminal step in the heme biosynthetic pathway, is the site of the defect in the human inherited disease erythropoietic protoporphyria. Molecular genetic studies have shown that the majority of erythropoietic
DeLeo, Vincent A., Yang, Lin, Wang, Xiuhua, Kurtz, Lisa, Poh-Fitzpatrick, Maureen B., Bloomer, Joseph, Lichtin, Alan   +6 more
core   +1 more source

Visible Light‐Induced Pigmentation: Improved In Vivo Methodology for Measuring Efficacy of 30 Products in 9 Randomised Controlled Trials and Correlation With In Vitro Assessment

Experimental Dermatology, Volume 34, Issue 9, September 2025.
ABSTRACT As hyperpigmentation can worsen with exposure to ultraviolet (UV) and visible light (VL), sunscreens with well‐balanced UVB/UVA protection and VL‐blocking pigments are recommended. Assessing efficiency against VL‐induced pigmentation is then mandatory.
Pascale Renoux, Hussein Jouni, Clément Laloux, Rita Touti, Diane‐Lore Vieu, François Lamarche, Silvia Morim Santos, Françoise Bernerd, Claire Marionnet   +8 more
wiley   +1 more source

Quality of life correlations in patients with Erythropoietic Protoporphyria and X-Linked Protoporphyria on Afamelanotide: A retrospective cohort study - Supplemental Figure 1

, 2022
Investigating the impact of therapeutic response to afamelanotide on quality of life in patients with erythropoietic protoporphyria and x-linked protoporphyria.THIS DATASET IS ARCHIVED AT DANS/EASY, BUT NOT ACCESSIBLE HERE.
Ceresnie, M (via Mendeley Data)
core   +1 more source

Liver involvement in patients with erythropoietic protoporphyria [PDF]

, 2022
Background: In erythropoietic protoporphyria (EPP), which presents with severe painful phototoxicity, progressive deposition of protoporphyrins in hepatocytes and bile canaliculi may result in liver disease.
Langendonk, J. G., Langendonk, J. G.; id_orcid, Coenen, S., Wilson, J. H. P., Wensink, D., Wagenmakers, M. A. E. M.   +5 more
core   +1 more source

Erythropoietic protoporphyria in pregnancy

Journal of Obstetrics and Gynaecology, 2006
Porphyria is a group of disorders where disturbance of porphyrin metabolism in the pathway of synthesis of the Hb molecule occurs.
Madu, A, Whittaker, S
openaire   +3 more sources

Vitiligo

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 8, Page 968-987, August 2025.
Summary Vitiligo is a common pigment disorder of the skin resulting in destruction of melanocytes. Non‐segmental vitiligo (NSV) is an autoimmune disorder. The etiopathogenesis of segmental vitiligo (SV) remains incompletely understood. Genetic predisposition and increased vulnerability of melanocytes towards stressors lead to a melanocyte‐specific CD8+
Markus Böhm, Adrian Tanew
wiley   +1 more source

Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria

, 2023
Erythropoietic protoporphyria and X-linked protoporphyria are rare genetic photodermatoses. Limited expertise with these disorders among physicians leads to diagnostic delays.
Dickey, Amy, Naik, Hetanshi, Hedstrom, Karli, Mazepa, Marshall, Kazamel, Mohamed, Balwani, Manisha, Levy, Cynthia, Raef, Haya, Leaf, Rebecca, Wang, Bruce, Rudnick, Sean, Quigley, John, Erwin, Angelika, Philpotts, Lisa, Thapar, Manish, Elmariah, Sammy, Goddu, Robert, Saberi, Behnam, Ungar, Jonathan, Beaven, Simon, Keel, Siobán   +20 more
core  

Erythropoietic Protoporphyria [PDF]

Proceedings of the Royal Society of Medicine, 1973
E J, Moynahan, B, Leppard
openaire   +4 more sources

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source

Sunscreen and Photoprotection Habits for Patients With Porphyria and Non‐Porphyric Photosensitivity Conditions

Photodermatology, Photoimmunology &Photomedicine, Volume 41, Issue 4, July 2025.
ABSTRACT Background/Objectives Individuals with photosensitivity diseases, including porphyria, face significant challenges in managing their condition due to heightened sensitivity to ultraviolet (UV) and visible light. Comprehensive photoprotection strategies are essential and prioritize environmental modifications, behavioral adjustments, protective
David Bajek, Robert Dawe, Ewan Eadie, Victoria A. McGuire, Sally Ibbotson   +4 more
wiley   +1 more source