Results 11 to 20 of about 675 (153)

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management. [PDF]

Liver Int
The erythropoietic protoporphyrias consist of three ultra-rare genetic disorders of the erythroid heme biosynthesis, including erythropoietic protoporphyria (EPP1), X-linked protoporphyria (XLEPP) and CLPX-protoporphyria (EPP2), which all lead to the ...
Minder AE, Kluijver LG, Barman-Aksözen J, Minder EI, Langendonk JG.   +4 more
europepmc   +4 more sources

The effects of cholecalciferol and afamelanotide on vitamin D levels in erythropoietic protoporphyria: a multicentre cohort study [PDF]

British Journal of Dermatology
Background: Patients with erythropoietic protoporphyria experience lifelong painful photosensitivity resulting in a lack of sunlight exposure. Previous studies have shown that 47-63% of patients with EPP suffer from vitamin D deficiency and a high ...
Hanssen, Bettina E., Homey, Bernhard, Kluijver, Louisa G., Kuerten, Viola, Langendonk, Janneke G., Nekouei Shahraki, Mitra, Schelonke, Kathrin, Wagenmakers, Margreet A.E.M.   +7 more
exaly   +6 more sources

Afamelanotide in protoporphyria and other skin diseases: a review [PDF]

Postepy Dermatologii I Alergologii
Afamelanotide is a synthetic alpha melanocyte stimulating hormone presenting a higher activity than natural hormones. Its main properties are related to the enhanced production of eumelanin by agonistically binding to the melanocortin-1 receptor. Since 2016 afamelanotide has been especially applied to treat cases of erythropoietic porphyria (EPP ...
Polańska A, Wegner J, Nutbohm P, Staubach P, Żaba R, Dańczak-Pazdrowska A, Jenerowicz D.   +6 more
exaly   +4 more sources

The Impact of Minimal Sunlight Exposure on Bone Health: Insights From a Cohort Study in Erythropoietic Protoporphyria. [PDF]

J Clin Endocrinol Metab
Context: Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disease, causing lifelong painful phototoxic reactions, minimal sunlight exposure, and vitamin D deficiency.
Kluijver LG, Wagenmakers MAEM, Wilson JHP, Langendonk JG.   +3 more
europepmc   +2 more sources

Treatment advances in Vitiligo: An Updated Review [PDF]

Dermatology Practical & Conceptual
Introduction Vitiligo is a common disorder of depigmentation caused by the progressive destruction of melanocytes that affects the skin, hair, and mucous membranes, clinically presenting as depigmented macules and leukotrichia.
Ishrat Binti Ismail, Yasmeen Jabeen Bhat, Mohd Shurjeel ul Islam   +2 more
doaj   +2 more sources

Quality of life in children with erythropoietic protoporphyria: a case-control study. [PDF]

J Dermatol
Erythropoietic protoporphyria (EPP) is an inherited metabolic disease that causes painful phototoxic reactions, starting in childhood. Studies have shown a reduced quality of life (QoL) in adults with EPP, however, data on children with the disease are ...
Kluijver LG, Wensink D, Wagenmakers MAEM, Huidekoper HH, Witters P, Rymen D, Langendonk JG.   +6 more
europepmc   +8 more sources

Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide – a three years observational study

Orphanet Journal of Rare Diseases, 2020
Background Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light.
Jasmin Barman-Aksözen, Anna-Elisabeth Minder   +1 more
exaly   +3 more sources

From darkness to light: Case report on afamelanotide-treatment in a 9-year-old child with erythropoietic protoporphyria [PDF]

JAAD Case Reports
Anna-Elisabeth Minder, MD, Jasmin Barman-Aksözen, PhD   +1 more
doaj   +2 more sources

Exploring FDA-Approved Frontiers: Insights into Natural and Engineered Peptide Analogues in the GLP-1, GIP, GHRH, CCK, ACTH, and α-MSH Realms. [PDF]

Biomolecules
Peptides continue to gain significance in the pharmaceutical arena. Since the unveiling of insulin in 1921, the Food and Drug Administration (FDA) has authorised around 100 peptides for various applications.
Al Musaimi O.
europepmc   +3 more sources

Letter to the Editor – Qualitative evidence submitted by patients to NICE: need for more quality or unrealistic and unfair requirements? [PDF]

Journal of Comparative Effectiveness Research
Rocco Falchetto, Jasmin Barman-Aksözen
doaj   +2 more sources