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Lysosomal Storage Diseases

Known as: Lysosomal Enzyme Disorders, Disorder, Lysosomal Enzyme, Lysosomal storage disorders 
A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms… 
National Institutes of Health

Related topics

Related topics

28 relations
CDISC SEND Non-Neoplastic Finding Type TerminologyClinical Data Interchange Standards Consortium TerminologyFabry DiseaseIn Blood

Narrower (15)

Cholesterol Ester Storage DiseaseFucosidase Deficiency DiseaseGALACTOSIALIDOSISGangliosidoses

Broader (1)

Inborn Errors of Metabolism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Biomarkers to monitor drug-induced phospholipidosis.
Highly Cited
2005
Highly Cited
2005
Delivery of β-Galactosidase to Mouse Brain via the Blood-Brain Barrier Transferrin Receptor
Enzyme replacement therapy of lysosomal storage disorders is complicated by the lack of enzyme transport across the blood-brain… 
Review
2003
Review
2003
Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders.
Glycosphingolipid (GSL) lysosomal storage disorders are a small but challenging group of human diseases to treat. Although these… 
Highly Cited
2000
Highly Cited
2000
Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cells.
Most lysosomal enzyme deficiencies are catastrophic illnesses with no generally available treatments. We have used the beta… 
Highly Cited
1995
Highly Cited
1995
Lysosomal Hydrolases Are Present in Melanosomes and Are Elevated in Melanizing Cells (*)
Melanosomes, the subcellular site of melanin synthesis and deposition, may be related to the endolysosomal lineage of organelles… 
Highly Cited
1994
Highly Cited
1994
Electrophysiologic findings in Fabry's disease with a short PR interval.
Highly Cited
1994
Highly Cited
1994
Induction of β-Amyloid-Containing Polypeptides in Hippocampus: Evidence for a Concomitant Loss of Synaptic Proteins and Interactions with an Excitotoxin
Long-term cultures of brain slices were used to test if the lysosomotropic agent chloroquine induces beta-amyloid-related… 
Highly Cited
1992
Highly Cited
1992
Isolation and characterization of Chinese hamster ovary cells defective in the intracellular metabolism of low density lipoprotein-derived cholesterol.
Review
1987
Review
1987
Abnormal expression of lysosomal cysteine proteinases in muscle wasting diseases.
Highly Cited
1976
Highly Cited
1976
Recognition of lysosomal glycosidases in vivo inhibited by modified glycoproteins
PURIFIED liver lysosomal glycosidases display very short plasma survival times following intravenous injection. The mechanism by… 
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