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Publicaties Porfyrie expertisecentrum 

26 resultaten

Clinical Characteristics and Outcomes of Acute Intermittent Porphyria: Insights From the European Porphyria Registry.

Baravelli CM, Sandberg S, Hammersland MH, Harper P, Badminton MN, Aguilera P, Cassiman D, Deybach JC, Di Pierro E, Graziadei G, Langendonk JG, Marcacci M, Sardh E, Schmitt C, To-Figueras J, Ventura P, Aarsand AK

Liver international : official journal of the International Association for the Study of the Liver, 2026 May

doi: 10.1111/liv.70615

The impact of minimal sunlight exposure on bone health: insights from a cohort study in erythropoietic protoporphyria.

Kluijver LG, Wagenmakers MAEM, Wilson JHP, Langendonk JG

The Journal of clinical endocrinology and metabolism, 2024 Oct 14

doi: 10.1210/clinem/dgae729

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management.

Minder AE, Kluijver LG, Barman-Aksözen J, Minder EI, Langendonk JG

Liver international : official journal of the International Association for the Study of the Liver, 2024 Jul 16

doi: 10.1111/liv.16027

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

Kluijver LG, Wensink D, Wagenmakers MAEM, Huidekoper HH, Witters P, Rymen D, Langendonk JG

The Journal of dermatology, 2024 Jun 26

doi: 10.1111/1346-8138.17348

The effects of cholecalciferol and afamelanotide on vitamin D levels in erythropoietic protoporphyria; a multicentre cohort study.

Kluijver LG, Nekouei Shahraki M, Wagenmakers MAEM, Hanssen BE, Kuerten V, Schelonke K, Homey B, Langendonk JG

The British journal of dermatology, 2024 Apr 18

doi: 10.1093/bjd/ljae148

Dersimelagon in Erythropoietic Protoporphyrias.

Barman-Aksözen J, Langendonk JG

The New England journal of medicine, 2023 Jun 29

doi: 10.1056/NEJMc2305601#sa2

Key Terms and Definitions in Acute Porphyrias: Results of an International Delphi Consensus Led by the European Porphyria Network.

Stein PE, Edel Y, Mansour R, Mustafa RA, Sandberg S, , Aarsand A

Journal of inherited metabolic disease, 2023 Apr 17

doi: 10.1002/jimd.12612

Erythropoietic protoporphyria in the Netherlands: Clinical features, psychosocial impact and the effect of afamelanotide.

Wensink D, Wagenmakers MAEM, Wilson JHP, Langendonk JG

The Journal of dermatology, 2022 Dec 28

doi: 10.1111/1346-8138.16690

Objective light exposure measurements and circadian rhythm in patients with erythropoietic protoporphyria: A case-control study.

Wensink D, Wagenmakers MAEM, Qi H, Wilson JHP, Langendonk JG

Molecular genetics and metabolism, 2022 03

doi: 10.1016/j.ymgme.2021.12.017

Liver involvement in patients with erythropoietic protoporphyria.

Wensink D, Coenen S, Wilson JHP, Wagenmakers MAEM, Langendonk JG

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 2022 Apr

doi: 10.1016/j.dld.2021.08.007

Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure.

Wensink D, Langendonk JG, Overbey JR, Balwani M, Van Broekhoven EJE, Wagenmakers MAEM, Wilson JHP, Wheeden K, Naik H, Desnick RJ

Genetics in medicine : official journal of the American College of Medical Genetics, 2021 09

doi: 10.1038/s41436-021-01176-z

Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria.

Wensink D, Wagenmakers MAEM, Langendonk JG

Expert review of clinical pharmacology, 2021 Feb

doi: 10.1080/17512433.2021.1879638