Article
Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.
Metabolic brain disease - 1 Mar 2014
Jakóbkiewicz-Banecka Joanna, Gabig-Cimińska Magdalena, Banecka-Majkutewicz Zyta, Banecki Bogdan, Węgrzyn Alicja, Węgrzyn Grzegorz
Abstract excerpt
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. However, expression of various phenotypes in particular diseases is extremely variable, from non-neuronopathic to severely...
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