Results 11 to 20 of about 3,099 (193)

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

Diagnosis and treatment of icteric hepatitis caused by erythropoietic protoporphyria: A case report [PDF]

Liver Research, 2022
Erythropoietic protoporphyria (EPP) is a rare inherited disease caused by partial deficiency activity of the enzyme ferrochelatase (FECH), resulting in excessive accumulation of protoporphyrin IX in erythrocyte and tissues. Here, we report a patient with
Hanqing Huang, Leiqin Cai, Xinhua Li, Shuru Chen   +3 more
doaj   +2 more sources

Acquired erythropoietic protoporphyria secondary to myelodysplastic syndrome: from mythology to oncologyAcquired Erythropoietic Protoporphyria Secondary to Myelodysplastic Syndrome: From Mythology to Oncology [PDF]

Acta Dermato-Venereologica
is missing (Short communication)
Mirjana Urosevic-Maiwald, Jivko Kamarachev, Christoph Renner, Anna-Elisabeth Minder   +3 more
doaj   +2 more sources

Validation of the sunlight exposure diary and the erythropoietic protoporphyria impact questionnaire (EPIQ) [PDF]

Orphanet Journal of Rare Diseases
Background Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare disorders that can negatively affect one’s health-related quality of life (HRQoL) because of pain from phototoxic reactions and the avoidance of sun exposure that ...
Hetanshi Naik, Susan D. Mathias, Michelle P. Turner, Megan O’Grady, Chelsea Norregaard, Hilary H. Colwell, William Savage, Melanie Chin   +7 more
doaj   +2 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   +2 more sources

Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect [PDF]

Frontiers in Pediatrics
Erythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting in a decreased activity of ferrochelatase.
Patryk Lipiński, Agnieszka Lipniacka, Maja Klaudel-Dreszler, Lidia Ziółkowska, Grażyna Kostrzewa, Edyta Odnoczko, Robert Wasilewski, Rafał Płoski, Anna Tylki-Szymańska   +8 more
doaj   +2 more sources

Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report [PDF]

Frontiers in Medicine
BackgroundErythropoietic protoporphyria (EPP) is a rare autosomal recessive disorder caused by mutations in the FECH gene, leading to ferrochelatase deficiency and the accumulation of protoporphyrin in various organs.
Tingting Yang, Changxian Chen, Chunming Li, Jinjing Wang   +3 more
doaj   +2 more sources

Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review [PDF]

Orphanet Journal of Rare Diseases
Background Erythropoietic protoporphyria is an inherited disorder characterized by mutations in the FECH gene, which encodes the enzyme ferrous chelatase.
Hongli Xiong, Song He, Zhaoxia Yang, Ruizao Zheng, Huihong Yu   +4 more
doaj   +2 more sources

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

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   +2 more sources

Inhibition of ABCG2 prevents phototoxicity in a mouse model of erythropoietic protoporphyria [PDF]

Nature Communications
Erythropoietic protoporphyria (EPP) is a genetic disease characterized by protoporphyrin IX-mediated painful phototoxicity. Currently, options for the management of EPP-associated phototoxicity are limited and no oral medication is available.
Junjie Zhu, Fu-Ying Qin, Saifei Lei, Ruizhi Gu, Qian Qi, Jie Lu, Karl E. Anderson, Peter Wipf, Xiaochao Ma   +8 more
doaj   +2 more sources