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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… Expand
National Institutes of Health

Papers overview

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Review
2019
Review
2019
The NLRP3 inflammasome is a critical component of the innate immune system that mediates caspase-1 activation and the secretion… Expand
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Review
2019
Review
2019
Perturbations in mitochondrial function and homeostasis are pervasive in lysosomal storage diseases, but the underlying… Expand
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Review
2018
Review
2018
  • Angela Sun
  • Annals of translational medicine
  • 2018
  • Corpus ID: 73426597
The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders that are caused for the most part by enzyme… Expand
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Highly Cited
2015
Highly Cited
2015
Your love and endless support keep me afloat. iv ACKNOWLEDGEMENTS I would like to acknowledge those whose guidance and support… Expand
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Highly Cited
2009
Highly Cited
2009
Master Controller Cellular organelles allow the localized regulation of specialized processes. Under certain conditions, such as… Expand
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Review
2009
Review
2009
Autophagy delivers cytoplasmic material and organelles to lysosomes for degradation. The formation of autophagosomes is… Expand
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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… Expand
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Highly Cited
2008
Highly Cited
2008
Inhalation of silica crystals causes inflammation in the alveolar space. Prolonged exposure to silica can lead to the development… Expand
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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… Expand
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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… Expand
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