Results 31 to 40 of about 601 (148)

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

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

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

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria

Biomolecules, 2023
Acute intermittent porphyria (AIP) is characterized by acute neurovisceral attacks that are precipitated by the induction of hepatic 5-aminolevulinic acid synthase 1 (ALAS1).
Makiko Yasuda, Sangmi Lee, Lin Gan, Hector A. Bergonia, Robert J. Desnick, John D. Phillips   +5 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

Two Novel Mutations in FECH in a Patient With Erythropoietic Protoporphyria: A Case Report

International Journal of Dermatology and Venerology, 2023
Introduction:. Erythropoietic protoporphyria (EPP) is a rare photodermatosis mainly caused by deficiency of the enzyme ferrochelatase (FECH). We herein report a case of EPP associated with 2 novel mutations in FECH. Case presentation:.
Qi Tan, Hui-Fang Yang, Li-Fang Lan, Ling Xie, Ru-Bing Lin, Chun-Lei Wan, Long-Nian Li   +6 more
doaj   +1 more source

When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome 18 deletion

Dermatology Reports, 2023
We present a case of erythropoietic protoporphyria (EPP) in a 21-year-old man who sought medical attention in April 2022 due to diffuse edema and erythema of the hands, which he had been experiencing since childhood and occurring shortly after sun ...
Sara Rovaris, Giuseppe La Rosa, Sara Mezzana, Francesco Tonon, Luigi Mori, Eugenio Monti, Giuseppe Mazzeo, Piergiacomo Calzavara-Pinton, Mariachiara Arisi   +8 more
doaj   +1 more source

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies

British Journal of Haematology, EarlyView.
Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi, Nandakumar Natarajan, Kathryn E. Dickerson, Richard A. Voit   +3 more
wiley   +1 more source

Afamelanotide improves quality of life and light tolerance in Austrian erythropoietic protoporphyria patients

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background Erythropoietic protoporphyria (EPP) is a rare genetic disorder characterized by severe phototoxic reactions that occur within minutes of light exposure. In clinical studies, afamelanotide has been shown to prolong pain‐free sun exposure, improve quality of life, and reduce the frequency and severity of phototoxic reactions ...
Magdalena Seidl‐Philipp, Hanna Schratter, Johanna Auer, Gerold Schwantzer, Maximilian Lammer, Philipp Hinteregger, Ines Vergeiner, Robert Gruber, Peter Wolf, Angelika Hofer   +9 more
wiley   +1 more source

A low‐cost handheld device for monitoring cutaneous photosensitivity

Photochemistry and Photobiology, EarlyView.
The cutaneous photosensitivity detection (CPD) device is a handheld contact‐based measurement device using 405 nm excitation and red fluorescence detection for monitoring skin phototoxicity risk after photodynamic therapy (PDT) procedures involving systemic aminolaevulinic acid (ALA) induced protoporphyrin IX (PpIX) photosensitization.
Md Asaduzzaman Rasel, Ryan Beland, Shakir Khan, Tayyaba Hasan, Jonathan P. Celli   +4 more
wiley   +1 more source