Results 41 to 50 of about 1,371 (158)

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

Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria [PDF]

Clinical and Molecular Hepatology, 2012
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway that is characterized by accumulation of protoporphyrin in the blood, erythrocytes, and tissues, and cutaneous manifestations of photosensitivity, all resulting ...
Pyoung-Jae Park, Shin Hwang, Young-Il Choi, Young-Dong Yu, Gil-Chun Park, Sung-Won Jung, Sam-Youl Yoon, Gi-Won Song, Tae-Yong Ha, Sung-Gyu Lee   +9 more
doaj   +1 more source

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

Ital J Pediatr
Tumminelli C, Burlo F, Pastore S, Severini GM, Berti I, Marchini S, Zanon D, De Martino E, Tommasini A.   +8 more
europepmc   +2 more sources

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

Tolerability of hormonal treatments in acute hepatic porphyria patients

Internal Medicine Journal, EarlyView.
Abstract Background Acute hepatic porphyria (AHP) flares have been associated with female hormones and the use of hormonal treatments. Women with AHP are traditionally advised to avoid exogenous oestrogen and progesterone, limiting options for contraception and management of menorrhagia, dysmenorrhoea and menopausal symptoms.
Andjela Arandjelovic, Charlotte Ross, Gayle Ross   +2 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

Counseling Families on Long‐Term Outcomes After Supraglottoplasty for Laryngomalacia: A Single‐Surgeon Patient‐Reported Outcome Cohort With 15‐Year Follow‐Up

Laryngoscope Investigative Otolaryngology, Volume 11, Issue 4, August 2026.
ABSTRACT Objective To provide long‐term patient‐reported outcome data to inform preoperative counseling for supraglottoplasty, and to determine whether any residual symptom burden reflects ongoing laryngeal dysfunction or broader health factors such as comorbidity.
Luke M. O'Neil, Shyan Vijayasekaran
wiley   +1 more source

Surgical treatment for breast cancer in a patient with erythropoietic protoporphyria and photosensitivity: a case report

Surgical Case Reports, 2021
Background Erythropoietic protoporphyria (EPP) is a rare disorder of heme synthesis. Patients with EPP mainly show symptoms of photosensitivity, but approximately 20% of EPPs are associated with the liver-related complications. We report a case of breast
Akiko Shimazaki, Takuma Hashimoto, Masaya Kai, Tetsuzo Nakayama, Mai Yamada, Karen Zaguirre, Kentaro Tokuda, Makoto Kubo, Ken Yamaura, Masafumi Nakamura   +9 more
doaj   +1 more source

Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria

Life, 2023
In animal models, melanocyte-stimulating hormones (MSHs) protect the liver from various injuries. Erythropoietic protoporphyria (EPP), a metabolic disorder, leads to the accumulation of protoporphyrin (PPIX).
Anna-Elisabeth Minder, Xiaoye Schneider-Yin, Henryk Zulewski, Christoph E. Minder, Elisabeth I. Minder   +4 more
doaj   +1 more source

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

JIMD Rep
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 ...
Naik H, Wheeden K, Colwell HH, Mathias SD, Norregaard C, Chin M, Savage W, Balwani M.   +7 more
europepmc   +2 more sources