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… (More)
National Institutes of Health

Papers overview

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Review
2015
Review
2015
Lysosomal storage diseases are a group of rare, inborn, metabolic errors characterized by deficiencies in normal lysosomal… (More)
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Highly Cited
2009
Highly Cited
2009
Lysosomes are organelles central to degradation and recycling processes in animal cells. Whether lysosomal activity is… (More)
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Highly Cited
2008
Highly Cited
2008
Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder caused by mutations in the acidic… (More)
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Highly Cited
2008
Highly Cited
2008
Most lysosomal storage disorders (LSDs) are caused by deficiencies of lysosomal hydrolases. While LSDs were among the first… (More)
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Highly Cited
2006
Highly Cited
2006
Lysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on the patient and family. Most… (More)
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Highly Cited
2004
Highly Cited
2004
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders individually considered as rare, and few data on… (More)
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Review
2004
Review
2004
Lysosomal storage disorders, of which more than 40 are known, are caused by the defective activity of lysosomal proteins, which… (More)
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Highly Cited
2000
Highly Cited
2000
Some lysosomal storage diseases result from the accumulation of lipids in degradative compartments of the endocytic pathway… (More)
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Highly Cited
1999
Highly Cited
1999
CONTEXT Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited… (More)
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Highly Cited
1999
Highly Cited
1999
We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based… (More)
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