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

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 neurodegeneration...

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Detalles Bibliográficos
Autores principales: Badilla-Porras, R., Echeverri-McCandless, A., Weimer, J. M., Ulate-Campos, A., Soto-Rodríguez, A., Gutiérrez-Mata, A., Hernández-Con, L., Bogantes-Ledezma, S., Balmaceda-Meza, A., Brudvig, J., Sanabria-Castro, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751374/
https://www.ncbi.nlm.nih.gov/pubmed/35012600
http://dx.doi.org/10.1186/s13023-021-02162-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751374/
https://www.ncbi.nlm.nih.gov/pubmed/35012600
http://dx.doi.org/10.1186/s13023-021-02162-z

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