@article{ATM22755,
author = {Angela Sun},
title = {Lysosomal storage disease overview},
journal = {Annals of Translational Medicine},
volume = {6},
number = {24},
year = {2018},
keywords = {},
abstract = {The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme deficiencies within the lysosome resulting in accumulation of undegraded substrate. This storage process leads to a broad spectrum of clinical manifestations depending on the specific substrate and site of accumulation. Examples of LSDs include the mucopolysaccharidoses, mucolipidoses, oligosaccharidoses, Pompe disease, Gaucher disease, Fabry disease, the Niemann-Pick disorders, and neuronal ceroid lipofuscinoses. This review summarizes the main clinical features, diagnosis, and management of LSDs with an emphasis on those for which treatment is available.},
issn = {2305-5847}, url = {https://atm.amegroups.org/article/view/22755}
}