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文献评审日期:2022-01-01
1. Ferraz MJ, Kallemeijn WW, Mirzaian M, Herrera Moro D, Marques A, Wisse P, Boot RG, Willems LI, Overkleeft HS, Aerts JM. Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses. Biochim Biophys Acta. 2014 May;1841(5):811-25. doi: 10.1016/j.bbalip.2013.11.004.
2. Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants. Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004.
3. Nowicki M, Bazan-Socha S, Błażejewska-Hyzorek B, Gellert R, Imiela J, Kaźmierczak J, Kłopotowski M, Oko-Sarnowska Z, Pawlaczyk K, Ponikowski P, Sławek J, Sykut-Cegielska J, Witkowski A, Zwolińska D. Enzyme replacement therapy in Fabry disease in Poland: a position statement. Pol Arch Intern Med. 2020 Jan 31;130(1):91-97. doi: 10.20452/pamw.15117.
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