Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis

Neuronal ceroid lipofuscinoses (NCLs) are a group of rare, inherited, neurodegenerative lysosomal storage disorders that affect children and adults. They are traditionally grouped together, based on shared clinical symptoms and pathological ground. To date, 13 autosomal recessive gene variants, as w...

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Detalles Bibliográficos
Autores principales: Kaminiów, Konrad, Kozak, Sylwia, Paprocka, Justyna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9145894/
https://www.ncbi.nlm.nih.gov/pubmed/35628533
http://dx.doi.org/10.3390/ijms23105729

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9145894/
https://www.ncbi.nlm.nih.gov/pubmed/35628533
http://dx.doi.org/10.3390/ijms23105729

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