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Publicaties Porfyrie expertisecentrum 

23 resultaten

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

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.

Balwani M, Sardh E, Ventura P, Peiró PA, Rees DC, Stölzel U, Bissell DM, Bonkovsky HL, Windyga J, Anderson KE, Parker C, Silver SM, Keel SB, Wang JD, Stein PE, Harper P, Vassiliou D, Wang B, Phillips J, Ivanova A, Langendonk JG, Kauppinen R, Minder E, Horie Y, Penz C, Chen J, Liu S, Ko JJ, Sweetser MT, Garg P, Vaishnaw A, Kim JB, Simon AR, Gouya L,

The New England journal of medicine, 2020 06 11

doi: 10.1056/NEJMoa1913147

Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice.

Wensink D, Wagenmakers MAEM, Barman-Aksözen J, Friesema ECH, Wilson JHP, van Rosmalen J, Langendonk JG

JAMA dermatology, 2020 05 01

doi: 10.1001/jamadermatol.2020.0352