Results 1 to 10 of about 634 (79)

A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria [PDF]

Molecular Genetics and Metabolism Reports, 2022
The use of iron supplementation for anemia in erythropoietic protoporphyria (EPP) is controversial with both benefit and deterioration reported in single case reports. There is no systematic study to evaluate the benefits or risks of iron supplementation
Manisha Balwani, Hetanshi Naik, Jessica R. Overbey, Herbert L. Bonkovsky, D. Montgomery Bissell, Bruce Wang, John D. Phillips, Robert J. Desnick, Karl E. Anderson   +8 more
doaj   +4 more sources

Recognized and Emerging Features of Erythropoietic and X-Linked Protoporphyria [PDF]

Diagnostics, 2022
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inherited disorders resulting from defects in two different enzymes of the heme biosynthetic pathway, i.e., ferrochelatase (FECH) and delta-aminolevulinic acid synthase-2 (ALAS2 ...
Elena Di Pierro, Francesca Granata, Michele De Canio, Mariateresa Rossi, Andrea Ricci, Matteo Marcacci, Giacomo De Luca, Luisa Sarno, Luca Barbieri, Paolo Ventura, Giovanna Graziadei   +10 more
doaj   +4 more sources

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 [PDF]

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   +3 more sources

Real‐world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X‐linked protoporphyria [PDF]

Journal of Dermatology
Abstract Erythropoietic protoporphyria (EPP) and X‐linked protoporphyria (XLP) are rare genetic disorders. There are limited data regarding how these disorders are managed in real‐world settings. The aim of this study was to document the characteristics and treatment patterns among patients diagnosed with EPP or XLP in general real‐world settings in ...
Valerie Derrien Ansquer
exaly   +3 more sources

Self‐Reported Liver Disease and the Burden of Erythropoietic Protoporphyria [PDF]

JIMD Reports
Erythropoietic protoporphyria (EPP) and X‐linked protoporphyria are metabolic disorders that cause skin phototoxicity and potential liver damage. We compared symptoms and impacts of phototoxic reactions, health‐related quality of life, and healthcare ...
Hetanshi Naik, Kristen Wheeden, Hilary H. Colwell, Susan D. Mathias, Chelsea Norregaard, Melanie Chin, William Savage, Manisha Balwani   +7 more
doaj   +3 more sources

Long-term iron supplementation in four patients with X-linked erythropoietic protoporphyria: associations with serum proteins and erythrocyte protoporphyrin levels—a single-centre retrospective study [PDF]

Frontiers in Molecular Biosciences
IntroductionX-linked erythropoietic protoporphyria (XLEPP) is an ultra-rare inborn error of the heme biosynthesis characterised by the accumulation of large amounts of protoporphyrin IX (PPIX) and zinc-protoporphyrin in the erythrocytes. PPIX absorbs the
Anna-Elisabeth Minder, Anna-Elisabeth Minder, Francesca Granata, Franziska van Breemen, Franziska van Breemen, Xiaoye Schneider-Yin, Xiaoye Schneider-Yin, Elisabeth I. Minder, Elisabeth I. Minder, Lanja Saleh, Lanja Saleh, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen, Jasmin Barman-Aksözen   +14 more
doaj   +4 more sources

Illuminating Dersimelagon: A Novel Agent in the Treatment of Erythropoietic Protoporphyria and X-Linked Protoporphyria [PDF]

Pharmaceuticals, 2023
Erythropoietic protoporphyria (EPP) is a genetic disorder stemming from reduced ferrochelatase expression, the final enzyme in the pathway of heme biosynthesis.
Katelyn E. Madigan, Sean R. Rudnick, Matthew A. Agnew, Numra Urooj, Herbert L. Bonkovsky   +4 more
doaj   +2 more sources

Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria [PDF]

JIMD Reports, 2019
Background Erythropoietic protoporphyria (EPP) and X‐linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life‐altering effects, tools that ...
Hetanshi Naik, Jessica R. Overbey, Robert J. Desnick, Karl E. Anderson, D. Montgomery Bissell, Joseph Bloomer, Herbert L. Bonkovsky, John D. Phillips, Bruce Wang, Ashwani Singal, Manisha Balwani   +10 more
doaj   +2 more sources

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria [PDF]

Molecular Medicine, 2013
X-linked protoporphyria (XLP) (MIM 300752) is a recently recognized erythropoietic porphyria due to gain-of-function mutations in the erythroid-specific aminolevulinate synthase gene (ALAS2).
David F. Bishop, Vassili Tchaikovskii, Irina Nazarenko, Robert J. Desnick   +3 more
doaj   +2 more sources

Cord blood porphyrin analysis in neonates at risk of inheriting protoporphyria: An observational cohort study. [PDF]

Br J Haematol
British Journal of Haematology, Volume 207, Issue 3, Page 1148-1151, September 2025.
Schulenburg-Brand D, Peek R, Bentley L, Swingler R, Pavlova YT, Dawe RS, McGuire VA.   +6 more
europepmc   +2 more sources