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
Inactivation of protoporphyrin IX in erythrocytes in patients with erythropoietic protoporphyria: a new treatment modality.
Sign Up to like & getrecommendations! Published in 2019 at "Photodiagnosis and photodynamic therapy"
DOI: 10.1016/j.pdpdt.2019.101582
Abstract: BACKGROUND Erythropoietic protoporphyria (EPP) is a rare, genetic disease with reduced ferrochelatase activity causing protoporphyrine IX (PpIX) to accumulate in erythrocytes. PpIX activation by daylight causes skin erythema, edema, burning, and stinging. No treatment exists… read more here.
Keywords: erythropoietic protoporphyria; protoporphyrin erythrocytes; treatment; erythrocytes patients ... See more keywords
Trends in erythrocyte protoporphyrin IX concentration by age, sex and season among patients with erythropoietic protoporphyria - 20 years of follow-up.
Sign Up to like & getrecommendations! Published in 2020 at "Photodiagnosis and photodynamic therapy"
DOI: 10.1016/j.pdpdt.2020.101928
Abstract: BACKGROUND Erythropoietic protoporphyria (EPP) is an inherited disorder leading to an increased concentration of the photoactive protoporphyrin IX (PpIX) in erythrocytes. Upon photoactivation in the dermal blood vessels and release to the skin it causes… read more here.
Keywords: erythrocyte ppix; erythropoietic protoporphyria; age; ppix ... See more keywords
Cimetidine for erythropoietic protoporphyria.
Sign Up to like & getrecommendations! Published in 2022 at "Photodiagnosis and photodynamic therapy"
DOI: 10.1016/j.pdpdt.2022.102793
Abstract: BACKGROUND Erythropoietic protoporphyria (EPP) is caused by deficiency of the enzyme converting protoporphyrin IX (PpIX) into heme resulting in accumulation of PpIX leading to photosensitivity and liver toxicity. Cimetidine might inhibit δ-aminolevulinic acid synthase influencing… read more here.
Keywords: treated cimetidine; treatment; photosensitivity; erythrocyte ppix ... 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
Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.07.017
Abstract: Erythropoietic protoporphyria (EPP), the most common porphyria of childhood and the third most common porphyria of adulthood, is characterized clinically by painful, non-blistering cutaneous photosensitivity. Two distinct inheritance patterns involving mutations affecting genes that encode… read more here.
Keywords: study isoniazid; erythropoietic protoporphyria; results pilot; pilot study ... See more keywords
Blastic Plasmacytoid Dendritic Cell Neoplasm Following Acquired Erythropoietic Protoporphyria
Sign Up to like & getrecommendations! Published in 2017 at "Baylor University Medical Center Proceedings"
DOI: 10.1080/08998280.2017.11930225
Abstract: A 56-year-old Texas rancher with a prior diagnosis of acquired erythropoietic protoporphyria secondary to an underlying myelodysplastic disorder developed an uncommon tumor, blastic plasmacytoid dendritic cell neoplasm (BPDCN). During his initial disease, analysis revealed a… read more here.
Keywords: erythropoietic protoporphyria; blastic plasmacytoid; acquired erythropoietic; plasmacytoid dendritic ... See more keywords
Phototesting in erythropoietic protoporphyria trials: A systematic review.
Sign Up to like & getrecommendations! Published in 2023 at "Experimental dermatology"
DOI: 10.1111/exd.14809
Abstract: Severe skin pain when exposed to long wave ultraviolet radiation or visible light is the main symptom of erythropoietic protoporphyria (EPP). Treatment options for EPP are inadequate and new treatments are needed but hampered by… read more here.
Keywords: erythropoietic protoporphyria; systematic review; protoporphyria trials; trials systematic ... See more keywords
Case Report of Patient With Erythropoietic Protoporphyria and Basal Cell Carcinoma Diagnoses
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Cutaneous Medicine and Surgery"
DOI: 10.1177/1203475416679825
Abstract: Background: Basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer. There is a clear association between BCC development and ultraviolet (UV) radiation. Erythropoietic protoporphyria (EPP) is an inherited porphyria disorder that is a… read more here.
Keywords: cell carcinoma; basal cell; erythropoietic protoporphyria; case ... 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
Clinical and molecular epidemiology of erythropoietic protoporphyria in Italy
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Dermatology"
DOI: 10.1684/ejd.2020.3880
Abstract: Erythropoietic protoporphyria (EPP) is a rare inherited disease associated with heme metabolism, characterized by severe life-long photosensitivity and liver involvement. To provide epidemiological data of EPP in Italy. Prospective/retrospective data of EPP patients were collected… read more here.
Keywords: clinical molecular; erythropoietic protoporphyria; epidemiology; epidemiology erythropoietic ... See more keywords