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Publicaties Porfyrie expertisecentrum 

25 resultaten

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

Diagnostic and therapeutic strategies for porphyrias.

Neeleman RA, Wensink D, Wagenmakers MAEM, Mijnhout GS, Friesema ECH, Langendonk JG

The Netherlands journal of medicine, 2020 07

NCBI: 32641543