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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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Autors principals: Jakóbkiewicz-Banecka, Joanna, Gabig-Cimińska, Magdalena, Banecka-Majkutewicz, Zyta, Banecki, Bogdan, Węgrzyn, Alicja, Węgrzyn, Grzegorz
Format: Artigo
Idioma:Inglês
Publicat: Springer US 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3930848/
https://ncbi.nlm.nih.gov/pubmed/24307179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11011-013-9455-6
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