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Publicaties Porfyrie expertisecentrum 

28 resultaten

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

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.

Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PE, Minder E, Windyga J, Bruha R, Cappellini MD, Sardh E, Harper P, Sandberg S, Aarsand AK, Andersen J, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Ko J, Penz C, Liu S, Lin T, Simon A, Anderson KE

Hepatology (Baltimore, Md.), 2020 05

doi: 10.1002/hep.30936

Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report.

Wensink D, Wagenmakers MA, Wilson JP, Langendonk JG

World journal of gastroenterology, 2019 08 14

doi: 10.3748/wjg.v25.i30.4292

Insufficient Evidence of Cimetidine Benefit in Protoporphyria.

Langendonk JG, Wilson JHP

JAMA dermatology, 2017 Feb 01

doi: 10.1001/jamadermatol.2016.4049

Correction to: Medical and financial burden of acute intermittent porphyria.

Neeleman RA, Wagenmakers MAEM, Koole-Lesuis RH, Mijnhout GS, Wilson JHP, Friesema ECH, Langendonk JG

Journal of inherited metabolic disease, 2018 Nov

doi: 10.1007/s10545-018-0216-x

Medical and financial burden of acute intermittent porphyria.

Neeleman RA, Wagenmakers MAEM, Koole-Lesuis RH, Mijnhout GS, Wilson JHP, Friesema ECH, Langendonk JG

Journal of inherited metabolic disease, 2018 09

doi: 10.1007/s10545-018-0178-z

Hair cortisol is elevated in patients with erythropoietic protoporphyria and correlates with body mass index and quality of life.

Suijker I, Savas M, van Rossum EFC, Langendonk JG

The British journal of dermatology, 2018 05

doi: 10.1111/bjd.16341

Osteoporosis in patients with erythropoietic protoporphyria.

Biewenga M, Matawlie RHS, Friesema ECH, Koole-Lesuis H, Langeveld M, Wilson JHP, Langendonk JG

The British journal of dermatology, 2017 12

doi: 10.1111/bjd.15893