Results 71 to 80 of about 5,659 (182)

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

Erythropoietic Protoporphyria Masquerading as Angioedema in a 4-Year-Old Female

Allergy, Asthma & Clinical Immunology, 2006
Angioedema is a common presentation with a broad differential, including rare disorders with which an allergist must be familiar. Our objective was to report a case of swelling of the hands and feet mimicking angioedema with hepatomegaly in a 4-year-old ...
Wang Helen C, Yousef Ejaz
doaj   +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

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

ERYTHROPOIETIC PROTOPORPHYRIA [PDF]

Medical Journal of Australia, 1973
E J, Moynahan, B, Leppard
openaire   +4 more sources

Zinc chelatase in human lymphocytes: detection of the enzymatic defect in erythropoietic protoporphyria

, 1988
We describe a fluorometric assay for heme synthetase, the enzyme that is genetically deficient in erythropoietic protoporphyria. The method, which can readily detect activity in 1 microliter of packed human lymphocytes, is based on the formation of zinc ...
Cox, T M, Norris, P, Nunn, Alistair, Hawk, J L   +3 more
core   +1 more source

Recurrent hepatic flares after SARS-CoV-2 vaccination in a patient with erythropoietic protoporphyria: A case report

Rare
Erythropoietic protoporphyria (EPP) is a rare genetic disorder that can lead to liver complications in a subset of patients. We describe the case of a 36-year-old woman with genetically confirmed EPP who developed acute liver injury following the second ...
Francesca Granata, Simona Leoni, Valeria Di Stefano, Anna Ludovica Fracanzani, Giovanna Graziadei   +4 more
doaj   +1 more source

A Case of Erythropoietic Protoporphyria with Severe Liver Dysfunction and Neurological Symptoms [PDF]

, 2017
Erythropoietic protoporphyria is a genetic disorder due to a deficiency of ferrochelatase resulting in excessive accumulation and excretion of protoporphyrin. The predominant clinical feature is photosensitivity.
박영년, 정기섭
core  

Afamelanotide for treating erythropoietic protoporphyria

, 2017
The company submission (CS) presents evidence of the clinical and cost effectiveness of afamelanotide (SCENESSE®) for adult patients with erythropoietic protoporphyria (EPP) above the age of 18 years old compared to best supportive care.
Lord, Joanne, Onyimadu, Oluchukwu, Gaisford, Wendy C., Rose, Micah J., Shepherd, Jonathan, Frampton, Geoffrey   +5 more
core   +1 more source