Results 51 to 60 of about 3,099 (193)

Exacerbation of erythropoietic protoporphyria by hyperthyroidism [PDF]

, 2018
Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by deficiency of ferrochelatase, the last enzyme in the heme biosynthetic pathway. The majority of EPP patients present with a clinical symptom of painful phototoxicity.
Haldemann, Andreas, Minder, Elisabeth, Schneider-Yin, Xiaoye   +2 more
core  

Data Sharing Experience, Guidance, and Resources From the Rare Diseases Clinical Research Network (RDCRN)

Clinical and Translational Science, Volume 18, Issue 9, September 2025.
ABSTRACT The Rare Diseases Clinical Research Network (RDCRN) comprises research consortia and other partners focused on the study of rare diseases. Its goals include sharing de‐identified data with the scientific community and other stakeholders to advance rare disease research.
Elaine Schwendeman, Henry J. Kaminski, Adeline Vanderver, Michael Wagner, Eileen King, The RDCRN Data Use & Data Sharing Committee, Michael Benatar, Lori E. Crosby, Eileen King, Matthias Kretzler, Joanne Lumsden, Peter A. Merkel, Jill Morris, Susan Ruediger, Elaine Schwendeman, Tiina Urv, Adeline Vanderver, Maurizio Macaluso   +17 more
wiley   +1 more source

Psychological Aspect and Quality of Life in Porphyrias: A Review

Diagnostics, 2022
The World Health Organization (WHO) describes “health” as a state of physical, mental, and social well-being and not merely the absence of disease or infirmity.
Granata Francesca, Annamaria Nicolli, Alessia Colaiocco, Elena Di Pierro, Giovanna Graziadei   +4 more
doaj   +1 more source

Outstanding bile pigment problems [PDF]

, 1969
In this review of the chemistry, biochemistry and chemical pathology of the bile pigments I am well aware that I shall ask many more questions than I am able to answer.
Gray, C. H.
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

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

Bioanalytical studies of porphyric disorders using HPLC with fluorescence detection [PDF]

, 2014
We describe here the development, validation, quantification and application of a method for determination of heme porphyrin precursors in the urine of porphyric patients.
Alves, Atecla Nunciata Lopes, Assunção, Nilson Antonio, Bechara, Etelvino José Henriques, Cypriani, Michele Gotelipe de Souza Corrêa   +3 more
core   +2 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

Abnormal Brain Iron Metabolism in Irp2 Deficient Mice Is Associated with Mild Neurological and Behavioral Impairments [PDF]

, 2014
Iron Regulatory Protein 2 (Irp2, Ireb2) is a central regulator of cellular iron homeostasis in vertebrates. Two global knockout mouse models have been generated to explore the role of Irp2 in regulating iron metabolism.
Becker, Lore, Calzada-Wack, Julia, de Angelis, Martin Hrabě, Fuchs, Helmut, Gailus-Durner, Valerie, Garrett, Lillian, Hölter, Sabine M., Klopstock, Thomas, Leibold, Elizabeth A., Mossbrugger, Ilona, Quintanilla-Fend, Leticia, Racz, Ildiko, Rathkolb, Birgit, Romney, Steven J., Wolf, Eckhard, Wurst, Wolfgang, Zimmer, Andreas, Zumbrennen-Bullough, Kimberly B.   +17 more
core   +5 more sources

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