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Lysosomal storage diseases

Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycos...

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Bibliografiske detaljer
Udgivet i:Transl Sci Rare Dis
Main Authors: Ferreira, Carlos R., Gahl, William A.
Format: Artigo
Sprog:Inglês
Udgivet: IOS Press 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5685203/
https://ncbi.nlm.nih.gov/pubmed/29152458
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/TRD-160005
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