Results 31 to 40 of about 1,436 (153)
Molecular Genetics and Metabolism Reports, 2019 Erythropoietic protoporphyria (EPP) is an autosomal recessive deficiency in heme biosynthesis due to pathogenic variants in the ferrochelatase gene (FECH). Patients present with lifelong photosensitivity and potential liver disease.
Michele C. Kieke +9 more
doaj +1 more source
Erythropoietic protoporphyria in pregnancy
Journal of Obstetrics and Gynaecology, 2020 Erythropoietic protoporphyria (EPP) is a rare, genetic condition causing painful, non-blistering photosensitivity, usually without scarring and typically presents in childhood (Ramanujam and Anders...
Elizabeth G, Nevins +1 more
openaire +2 more sources
An overview of the cutaneous porphyrias [version 1; referees: 2 approved]
F1000Research, 2017 This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj +1 more source
Photodermatoses in Children [PDF]
JDVI (Journal of General Procedural Dermatology & Venereology Indonesia), 2017 Photodermatoses cover the skin’s abnormal reactions to sunlight, usually to its ultraviolet (UV) component or visible light. Etiologically, photodermatoses can be classified into 4 categories: (1) immunologically mediated photodermatoses (idiopathic ...
Siti Nurani Fauziah +2 more
doaj +1 more source
A Case of Erythropoietic Protoporphyria [PDF]
Baylor University Medical Center Proceedings, 2016 A 53-year-old Texas rancher developed a blistering skin rash that was sensitive to exposure to sunlight. He was referred to hematology with a presumptive diagnosis of porphyria. His peripheral blood counts were within normal limits, and a bone marrow examination revealed erythroid dyspoiesis and ringed sideroblasts.
Kathryn, Lindsey +2 more
openaire +2 more sources
The diagnosis and management of porphyria cutanea tarda (PCT)
South African Family Practice, 2009 The porphyrias are a group of disorders in which excessive quantities of porphyrins or their precursors are produced. They are due to abnormalities in the control of the porphyrin-haem metabolic pathway.
Mojakgomo H. Motswaledi
doaj +1 more source
Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay
Metabolites, 2021 Erythropoietic porphyrias are caused by enzymatic dysfunctions in the heme biosynthetic pathway, resulting in porphyrins accumulation in red blood cells.
Antoine Poli +6 more
doaj +1 more source
Clinically Important Features of Porphyrin and Heme Metabolism and the Porphyrias
Metabolites, 2014 Heme, like chlorophyll, is a primordial molecule and is one of the fundamental pigments of life. Disorders of normal heme synthesis may cause human diseases, including certain anemias (X-linked sideroblastic anemias) and porphyrias.
Siddesh Besur +3 more
doaj +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 +9 more
doaj +1 more source
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 +3 more
wiley +1 more source