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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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Bibliographic Details
Published in:Transl Sci Rare Dis
Main Authors: Ferreira, Carlos R., Gahl, William A.
Format: Artigo
Language:Inglês
Published: IOS Press 2017
Subjects:
Online Access: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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