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Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases

Lysosomal storage diseases are inherited metabolic disorders caused by genetic defects causing deficiency of various lysosomal proteins, and resultant accumulation of non-degraded compounds. They are multisystemic diseases, and in most of them (>70 %) severe brain dysfunctions are evident. Howeve...

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Detalles Bibliográficos
Autores principales: Jakóbkiewicz-Banecka, Joanna, Gabig-Cimińska, Magdalena, Banecka-Majkutewicz, Zyta, Banecki, Bogdan, Węgrzyn, Alicja, Węgrzyn, Grzegorz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930848/
https://www.ncbi.nlm.nih.gov/pubmed/24307179
http://dx.doi.org/10.1007/s11011-013-9455-6