Results 41 to 50 of about 27,170 (181)

Adjunctive use of Polypodium leucotomos extract in patients with erythropoietic protoporphyria: An exploratory study. [PDF]

Photochem Photobiol
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) cause severe photosensitivity, resulting in significant quality of life (QoL) impairment.
Shetty N, Quiñonez RL, Ceresnie MS, Ghosh S, Lim HW, Mohammad TF.   +5 more
europepmc   +2 more sources

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

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   +1 more source

Investigation of an atypical protoporphyric family in South Africa [PDF]

, 2010
Includes bibliographical references (leaves 171-184).Affected members of the family investigated in this dissertation presented with photosensitivity and raised red cell protoporphyrin concentrations, indicative of protoporphyria.
Haumann, Carel Eduard
core   +1 more source

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

J Dermatol
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 ...
Silver SM, Houghton K, Hitchens A, Ansquer VD, Ciepielewska M.   +4 more
europepmc   +2 more sources

Targeted resequencing of FECH locus reveals that a novel deep intronic pathogenic variant and eQTLs may cause erythropoietic protoporphyria (EPP) through a methylation-dependent mechanism [PDF]

Genetics in Medicine, 2020
Existing data do not explain the reason why some individuals homozygous for the hypomorphic FECH allele develop erythropoietic protoporphyria (EPP) while the majority are completely asymptomatic. This study aims to identify novel possible genetic variants contributing to this variable phenotype.High-throughput resequencing of the FECH gene, qualitative
Matteo Chiara, Ilaria Primon, Letizia Tarantini, Luca Agnelli, Valentina Brancaleoni, Francesca Granata, Valentina Bollati, Elena Di Pierro   +7 more
openaire   +2 more sources

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

, 2023
Background Erythropoietic protoporphyria is a rare disorder which represents an important health problem in children, causing painful photosensitivity. Little is known on the correlation between genetic profile and clinical manifestations.
Cristina Tumminelli, Burlo, Francesca, Eleonora De Martino, De Martino, Eleonora, Tommasini, Alberto, Stefano Marchini, Pastore, Serena, Giovanni Maria Severini, Severini, Giovanni Maria, Francesca Burlo, Alberto Tommasini, Irene Berti, Tumminelli, Cristina, Marchini, Stefano, Berti, Irene, Davide Zanon, Zanon, Davide, Serena Pastore   +17 more
core   +1 more source

Role of phlebotomy in the treatment of liver damage related to erythropoietic porphyria

Scientific Reports, 2022
Liver damage affects the prognosis of patients with erythropoietic protoporphyria (EPP). However, there is no radical cure for EPP patients with severe liver damage.
Satoru Hagiwara, Naoshi Nishida, Hiroshi Ida, Kazuomi Ueshima, Yasunori Minami, Masahiro Takita, Tomoko Aoki, Masahiro Morita, Hirokazu Chishina, Yoriaki Komeda, Akihiro Yoshida, Ah-Mee Park, Masako Sato, Akira Kawada, Hajime Nakano, Hiroshi Nakagawa, Masatoshi Kudo   +16 more
doaj   +1 more source

Cimetidine for erythropoietic protoporphyria

, 2022
Background: Erythropoietic protoporphyria (EPP) is caused by deficiency of the enzyme converting protoporphyrin IX (PpIX) into heme resulting in accumulation of PpIX; leading to photosensitivity and liver toxicity.
Heerfordt, Ida M., Lerche, Catharina M., Wulf, Hans Christian, Ida M. Heerfordt, Hans Christian Wulf, Catharina M. Lerche   +5 more
core   +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

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

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   +1 more source