Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience

Abstract Background Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material (known as lipofuscin), progressive neurodege...

Full description

Bibliographic Details
Main Authors: R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig, A. Sanabria-Castro
Format: Article
Language:English
Published: BMC 2022-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Neuronal ceroid lipofuscinosis
Batten disease
CNL6
Variant late infantile NCL
vLINCL
Lysosomal storage disease
Online Access:https://doi.org/10.1186/s13023-021-02162-z

Internet

https://doi.org/10.1186/s13023-021-02162-z

Similar Items