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

Autor: Wensink, D., Langendonk, J.G., Overbey, J.R., Balwani, M., Van Broekhoven, E.J.E., Wagenmakers, M.A.E.M., Wilson, J.H.P., Wheeden, K., Naik, H., Desnick, R.J.

Publikováno v: In Genetics in Medicine September 2021 23(9):1616-1623

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Quantifying the impact of symptomatic acute hepatic porphyria on well-being via patient-reported outcomes: Results from the Porphyria Worldwide Patient Experience Research (POWER) study.

Autor: Dickey A; Division of Pulmonary and Critical Care Medicine, Department of Medicine Massachusetts General Hospital Boston Massachusetts USA., Wheeden K; American Porphyria Foundation Bethesda Maryland USA., Lyon D; American Porphyria Foundation Bethesda Maryland USA., Burrell S; Global Porphyria Advocacy Coalition Durham City UK., Hegarty S; Global Porphyria Advocacy Coalition Durham City UK., Falchetto R; Swiss Society for Porphyria Zürich Switzerland., Williams ER; American Porphyria Foundation Bethesda Maryland USA., Barman-Aksözen J; Swiss Society for Porphyria Zürich Switzerland.; Institute of Laboratory Medicine, Department of Medical Institutes Stadtspital Zürich, Triemli Zürich Switzerland., DeCongelio M; Cerner Enviza (formerly Kantar Health) New York New York USA., Bulkley A; Cerner Enviza (formerly Kantar Health) New York New York USA., Matos JE; Cerner Enviza (formerly Kantar Health) Kansas City Missouri USA., Mnif T; Cerner Enviza (formerly Kantar Health) Paris France., Mora J; Alnylam Pharmaceuticals Cambridge Massachusetts USA., Ko JJ; Alnylam Pharmaceuticals Cambridge Massachusetts USA., Meninger S; Alnylam Pharmaceuticals Cambridge Massachusetts USA., Lombardelli S; Alnylam Pharmaceuticals Maidenhead UK., Nance D; Banner Health Gilbert Arizona USA.

Publikováno v: JIMD reports [JIMD Rep] 2022 Oct 18; Vol. 64 (1), pp. 104-113. Date of Electronic Publication: 2022 Oct 18 (Print Publication: 2023).