 | Up a level |
Jackson, Christopher; Bauer, M F; Schaller, André; Kotzaeridou, U; Ferrarini, A; Hahn, Dagmar Karen; Chehade, H; Barbey, F; Tran, C; Gallati, S; Haeberli, Annemarie; Eggimann, S; Bonafé, L; Nuoffer, Jean-Marc (2016). A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. European journal of pediatrics, 175(4), pp. 517-525. Springer 10.1007/s00431-015-2661-y
Mehta, A; Beck, M; Elliott, P; Guigliani, R; Linhart, A; Sunder-Plassmann, G; Schiffmann, R; Barbey, F; Ries, M; Clarke, JT; Fabry, Outcome survey Investigators; Huynh-Do, U (2009). Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet, 374(9706), pp. 1986-96. London: Elsevier 10.1016/S0140-6736(09)61493-8
