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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Jakóbkiewicz-Banecka, Joanna, Gabig-Cimińska, Magdalena, Banecka-Majkutewicz, Zyta, Banecki, Bogdan, Węgrzyn, Alicja, Węgrzyn, Grzegorz
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Springer US 2013
विषय:
ऑनलाइन पहुंच: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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