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Gautschi, Matthias; Merlini, Laura; Calza, Anne-Marie; Hayflick, Susan; Nuoffer, Jean-Marc; Fluss, Joel (2014). Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. European journal of paediatric neurology, 18(4), pp. 516-519. Elsevier 10.1016/j.ejpn.2014.02.005
