Results 91 to 100 of about 5,659 (182)

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

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

Erythropoietic protoporphyria is a rare genetic disorder of heme biosynthesis characterized by protoporphyrin-IX accumulation, painful phototoxic reactions, and hepatobiliary disease, for which no disease-modifying therapies are approved.
Bonkovsky, Herbert L., Desnick, Robert, Anderson, Karl E., Dickey, Amy K., Chin, Melanie, Balwani, Manisha, Levy, Cynthia, Thapar, Manish, Savage, Will, Wang, Bruce, Keel, Siobán   +10 more
core   +1 more source

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria

Molecular Medicine, 2013
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of-function mutations in the ferrochelatase (FECH) gene and gain-of-function ...
Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Lawrence Liu, Robert J. Desnick, The Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network   +13 more
doaj   +1 more source

Advances in the management of erythropoietic protoporphyria – role of afamelanotide

, 2016
Ashley M Lane,1 Jerome T McKay,2 Herbert L Bonkovsky1 1Department of Internal Medicine, Section on Gastroenterology; 2Department of Microbiology and Immunology, Wake Forest University School of Medicine, Winston-Salem, NC, USAAbstract ...
McKay JT, Lane AM, Bonkovsky HL
core  

Application and clinical efficacy of red blood cell therapeutic apheresis in erythropoietic protoporphyria and hereditary hemochromatosis

Zhongguo shuxue zazhi
[Objective] To explore the application and clinical efficacy of red blood cell therapeutic apheresis in erythropoietic protoporphyria (EPP) and hereditary hemochromatosis (HH).
LIU Haoqiang, ZHAO Caihan, YUAN Qing, XIE Lixia, ZOU Yong, LU Ying   +5 more
doaj   +1 more source

Erythropoietic protoporphyria patients in Slovenia

, 2015
Background: There are only scarce epidemiological data on the prevalence of erythropoietic protoporphyria (EPP) in a given population. The aim of this study was to assess the prevalence of EPP within the Slovenian population.
Marko, Pij B., Povalej Bržan, Petra, Kansky, Aleksej, Miljković, Jovan, Gorenjak, Maksimiljan   +4 more
core  

Erythropoietic protoporphyria patients in Slovenia.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica, 2007
There are only scarce epidemiological data on the prevalence of erythropoietic protoporphyria (EPP) in a given population. The aim of this study was to assess the prevalence of EPP within the Slovenian population.The patients were selected by routine examination of photosensitive patients and by studying hospital records.
Gorenjak, Maksimiljan, Kansky, Aleksej, Marko, Pij B., Miljković, Jovan, Povalej, Petra   +4 more
openaire   +3 more sources

Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families

, 1990
Erythropoietic protoporphyria (EPP) is associated with a deficiency of protohaem ferrolyase. We have used a novel assay for this enzyme based on its ability to utilize zinc as a substrate to investigate the inheritance of EPP in nine affected families ...
Cox, T M, Norris, P G, Nunn, Alistair V., Hawk, J L   +3 more
core   +1 more source

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

JAAD Case Reports, 2017
Megumi Mizawa, MD, PhD, Teruhiko Makino, MD, PhD, Fumina Furukawa, MD, Ryotaro Torai, MD, Hajime Nakano, MD, PhD, Daisuke Sawamura, MD, PhD, Tadamichi Shimizu, MD, PhD   +6 more
doaj   +1 more source