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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.
Review
2015
Review
2015
Lysosomal storage diseases: from pathophysiology to therapy.
Lysosomal storage diseases are a group of rare, inborn, metabolic errors characterized by deficiencies in normal lysosomal… 
Review
2014
Review
2014
Sphingolipid lysosomal storage disorders
Lysosomal storage diseases are inborn errors of metabolism, the hallmark of which is the accumulation, or storage, of… 
Highly Cited
2011
Highly Cited
2011
Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance
Highly Cited
2008
Highly Cited
2008
Lysosomal storage diseases as disorders of autophagy
The cellular turnover of proteins and organelles requires cooperation between the autophagic and the lysosomal degradation… 
Highly Cited
2006
Highly Cited
2006
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease
To understand the mechanisms of skeletal muscle destruction and resistance to enzyme replacement therapy in Pompe disease, a… 
Highly Cited
2005
Highly Cited
2005
Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration
ClC‐7 is a chloride channel of late endosomes and lysosomes. In osteoclasts, it may cooperate with H+‐ATPases in acidifying the… 
Highly Cited
2005
Highly Cited
2005
Differential Lysosomal Proteolysis in Antigen-Presenting Cells Determines Antigen Fate
Antigen-presenting cells (APCs) internalize antigens and present antigen-derived peptides to T cells. Although APCs have been… 
Highly Cited
1997
Highly Cited
1997
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.
Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a fatal neurodegenerative disease whose defective gene has… 
Highly Cited
1992
Highly Cited
1992
Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease).
The ceroid-lipofuscinoses (Batten disease) are neurodegenerative inherited lysosomal storage diseases of children and animals. A… 
Review
1991
Review
1991
Saposin proteins: structure, function, and role in human lysosomal storage disorders
Saposins are sphingolipid activator proteins, four of which are derived from a single precursor, prosaposin, by proteolytic… 
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