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Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills

Crossref DOI link: https://doi.org/10.1186/s13023-024-03448-8

Published Online: 2024-12-19

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

Authors

Kayani, Saima https://orcid.org/0000-0003-1081-6428
BordesEdgar, Veronica

Lowden, Andrea

Nettesheim, Emily R.

Dahshi, Hamza

Messahel, Souad

Minassian, Berge A.

Greenberg, Benjamin M.
Funding

Funding for this research was provided by:

University of Texas Southwestern Medical Center

National Institute of Health Sciences (5T32GM131945-03)

Neurogene.Inc (funding for NHS was provided by Neurogene.Inc)
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Text and Data Mining valid from 2024-12-19

Version of Record valid from 2024-12-19
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Article History

Received: 14 March 2024

Accepted: 11 November 2024

First Online: 19 December 2024

Declarations

:

: Ethical approval was obtained from the University of Texas Southwestern Medical Center Institutional Review Board prior to commencing this research study (STU 2020-0916, STU 2020-0640). An informed consent waiver was obtained for all participants.

: This is a retrospective data collection for which a consent waiver was obtained to conduct this research.

: The authors have no competing interests to declare.

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