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

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

Abstract Background This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to characterize the clinical, electrophysiologic and neuroimaging phenotypes. Methods We performed a single-center cross sectional data collection along with retros...

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Hlavní autoři: Saima Kayani, Veronica BordesEdgar, Andrea Lowden, Emily R. Nettesheim, Hamza Dahshi, Souad Messahel, Berge A. Minassian, Benjamin M. Greenberg
Médium: Článek
Jazyk:English
Vydáno: BMC 2024-12-01
Edice:Orphanet Journal of Rare Diseases
Témata:
MFSD8
Neuronal ceroid lipofuscinosis
Batten disease
Rare brain disease
On-line přístup:https://doi.org/10.1186/s13023-024-03448-8

Internet

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

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