Results 21 to 30 of about 3,099 (193)

Quality of life in children with erythropoietic protoporphyria: a case-control study. [PDF]

J Dermatol
Erythropoietic protoporphyria (EPP) is an inherited metabolic disease that causes painful phototoxic reactions, starting in childhood. Studies have shown a reduced quality of life (QoL) in adults with EPP, however, data on children with the disease are ...
Kluijver LG, Wensink D, Wagenmakers MAEM, Huidekoper HH, Witters P, Rymen D, Langendonk JG.   +6 more
europepmc   +3 more sources

Erythropoietic Protoporphyria [PDF]

Proceedings of the Royal Society of Medicine, 1973
A second patient with erythropoietic protoporphyria (EPP) from India is reported. Unusual features in this patient were high degree of photosensitivity and marked hypertrichosis. The probable cause of hypertrichosis and its relationship to sunlight is discussed.
E J, Moynahan, B, Leppard
  +6 more sources

Development and Content Validation of Novel Patient-Reported Outcome Measures to Assess Disease Severity and Change in Patients with Erythropoietic Protoporphyria: The EPP Impact Questionnaire (EPIQ) [PDF]

Patient Related Outcome Measures
Susan D Mathias,1 Laurie Burke,2 Hilary H Colwell,1 George Mensing,3 Will Savage,3 Hetanshi Naik4 1Health Outcomes Solutions, Palm Beach Gardens, FL, USA; 2LORA Group, Normal, IL, USA; 3Disc Medicine, Watertown, MA, USA; 4Department of Genetics, Stanford
Mathias SD, Burke L, Colwell HH, Mensing G, Savage W, Naik H   +5 more
doaj   +2 more sources

Correction: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints [PDF]

Italian Journal of Pediatrics
Cristina Tumminelli, Francesca Burlo, Serena Pastore, Giovanni Maria Severini, Irene Berti, Stefano Marchini, Davide Zanon, Eleonora De Martino, Alberto Tommasini   +8 more
doaj   +2 more sources

From darkness to light: Case report on afamelanotide-treatment in a 9-year-old child with erythropoietic protoporphyria [PDF]

JAAD Case Reports
Anna-Elisabeth Minder, MD, Jasmin Barman-Aksözen, PhD   +1 more
doaj   +2 more sources

ERYTHROPOIETIC PROTOPORPHYRIA

British Journal of Dermatology, 1971
No abstract ...
L, Stanoeva, D, Miovski, P, Cadikovski
  +7 more sources

In vitro Assessment of Solar Filters for Erythropoietic Protoporphyria in the Action Spectrum of Protoporphyrin IX

Frontiers in Medicine, 2021
Introduction: Subjects with erythropoietic protoporphyria rely on broad-spectrum sunscreens with high sun protection factor, which is not informative on efficacy in the absorption spectrum of protoporphyrin IX, spanning visible radiation and peaking ...
Alvise Sernicola, Elena Cama, Maria Guglielmina Pelizzo, Maria Guglielmina Pelizzo, Enrico Tessarolo, Annamaria Nicolli, Giulia Viero, Mauro Alaibac   +7 more
doaj   +1 more source

The role of allogeneic stem cell transplantation in severe erythropoietic protoporphyria in adults and young adults: timing and modalities [PDF]

Hematology, Transfusion and Cell Therapy
Camilla Frieri, Antoine Poli, Marie Balsat, Flore Sicre de Fontbrune   +3 more
doaj   +2 more sources

German Cohort Observational Study to Investigate the Short- and Long-Term Safety and Clinical Effectiveness of Afamelanotide 16 mg (SCENESSE) in Patients With Erythropoietic Protoporphyria (EPP). [PDF]

Photodermatol Photoimmunol Photomed
ABSTRACT Background Afamelanotide 16 mg (SCENESSE) is the first approved treatment for erythropoietic protoporphyria (EPP). EPP is a rare autosomal recessive inherited disorder of the haem biosynthesis pathway, where patients experience severe and debilitating acute phototoxicity. It affects at least one in 140,000 of the European population.
Homey B, Schelonke K, Schlegel CM, Bruch-Gerharz D, Weller K, Kiefer L, Stölzel U, Staubach-Renz P, Wegner J, Keller-Melchior R, Walker G, Bochno M, Bilbao P.   +12 more
europepmc   +2 more sources

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source