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Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Crossref DOI link: https://doi.org/10.1186/s40478-018-0646-6

Published Online: 2018-12-27

Published Print: 2018-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Beck-Wödl, Stefanie

Harzer, Klaus

Sturm, Marc

Buchert, Rebecca

Rieß, Olaf

Mennel, Hans-Dieter

Latta, Elisabeth

Pagenstecher, Axel

Keber, Ursula http://orcid.org/0000-0002-0539-7065
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Article History

Received: 3 December 2018

Accepted: 3 December 2018

First Online: 27 December 2018

Ethics approval and consent to participate

: All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

: Informed consent was obtained from the parents of the siblings for whom identifying information is included in this article.

: The authors declare that they have no competing interest.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

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