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Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro
Krägeloh-Mann, Inge, Harzer, Klaus, Rostásy, Kevin, Beck-Wödl, Stefanie, Bornemann, Antje, Böhringer, Judith, Bevot, Andrea, Beck, Verena, Merkel, Gisela, Pechan, MariaVolume:
21
Language:
english
Journal:
European Journal of Paediatric Neurology
DOI:
10.1016/j.ejpn.2016.12.012
Date:
May, 2017
File:
PDF, 1.24 MB
english, 2017