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Lysosomal storage disorders: Clinical and therapeutic aspects

Gregory M Pastores1

  • 1Department of Medicine (Clinical Genetics), National Center for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, Dublin, Ireland; Department of Medicine (Genetics), University College of Dublin School of Medicine, Dublin, Ireland.

Handbook of Clinical Neurology
|August 24, 2023
PubMed
Summary

Lysosomal storage disorders are inherited metabolic diseases due to enzyme deficiencies. This review covers their defects, symptoms, and therapeutic outcomes including enzyme replacement and transplantation.

Keywords:
Enzyme replacement therapyHereditaryLysosomalMetabolicNeurologicStorage

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