Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0017-7
Abstract: Patients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes… read more here.
Keywords: erythropoietic protoporphyria; anemia; gender; disease ... See more keywords
Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria (EPP) patients.
Sign Up to like & getrecommendations! Published in 2019 at "Immunologic research"
DOI: 10.1007/s12026-019-09097-5
Abstract: Phototoxic reaction is a known feature of EPP at least in part triggered by the oxidative status, complement system activation, and mast cell response. The aim of this study was to verify some aspects involved… read more here.
Keywords: involvement phototoxic; summer; reaction; inflammatory involvement ... See more keywords
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.04.013
Abstract: Deficiency in ferrochelatase (FECH), the last enzyme in the heme biosynthetic pathway, leads to an accumulation of protoporphyrin IX (PPIX) that causes a severely painful phototoxic reaction of the skin in patients with erythropoietic protoporphyria… read more here.
Keywords: erythropoietic protoporphyria; aminolevulinic acid; acid synthase; epp patients ... See more keywords
Microcytosis in Erythropoietic Protoporphyria
Sign Up to like & getrecommendations! Published in 2020 at "Blood"
DOI: 10.1182/blood-2020-139285
Abstract: Background: Erythropoietic Protoporphyria (EPP) is a rare inherited hematological disorder resulting from reduced activity of the ferrochelatase (FECH), which catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme, in the last step… read more here.
Keywords: anemia; epp patients; ppix; iron ... See more keywords