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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Transl Sci Rare Dis
Prif Awduron: Ferreira, Carlos R., Gahl, William A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: IOS Press 2017
Pynciau:
Mynediad Ar-lein: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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