Late onset Krabbe disease due to the new GALC p.A1a543Pro mutation, with intriguingly high residual GALC activity in vitro

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Late onset Krabbe disease due to the new GALC p.A1a543Pro mutation, with intriguingly high residual GALC activity in vitro

Author: Harzer, Klaus; Bornemann, Antje; Bevot, Andrea; Beck, Verena; Merkel, Gisela; Pechan, Maria; Krägeloh-Mann, Ingeborg; Beck-Wödl, Stefanie; Rostásy, Kevin; Böhringer, Judith
Tübinger Autor(en):
Harzer, Klaus
Bornemann, Antje
Bevot, Andrea
Beck, Verena
Merkel, Gisela
Pechan, Maria
Krägeloh-Mann, Ingeborg
Beck-Wödl, Stefanie
Böhringer, Judith
Published in: European Journal of Paediatric Neurology (2017), Bd. 21, H. 3, S. 522-529
Verlagsangabe: Oxford (u.a.) : Elsevier
Language: English
Full text: http://dx.doi.org/10.1016/j.ejpn.2016.12.012
ISSN: 1532-2130
DDC Classifikation: 610 - Medicine and health
Dokumentart: Article
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