Gangliosidoses

Known as: Gangliosidoses [Disease/Finding], Ganglioside Storage Disorders, Storage Diseases, Ganglioside 
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1965-2017
010203019652017

Papers overview

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Highly Cited
2010
Highly Cited
2010
Hypomyelination is observed in the context of a growing number of genetic disorders that share clinical characteristics. The aim… (More)
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Highly Cited
2009
Highly Cited
2009
BACKGROUND Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder caused most commonly by a defect in the NPC1… (More)
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2007
2007
Late-onset GM2 gangliosidosis is composed of two related, autosomal recessive, neurodegenerative diseases, both resulting from… (More)
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Highly Cited
2004
Highly Cited
2004
GM1-ganglioside (GM1) is a major sialoglycolipid of neuronal membranes that, among other functions, modulates calcium homeostasis… (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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Highly Cited
2001
Highly Cited
2001
beta-Hexosaminidase, a family 20 glycosyl hydrolase, catalyzes the removal of beta-1,4-linked N-acetylhexosamine residues from… (More)
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Highly Cited
1999
Highly Cited
1999
phingolipid-storage diseases (SLSDs) generally result from a defective lysosomal hydrolase or activator-protein cofactors, which… (More)
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1999
1999
BACKGROUND Lipid-storage diseases are collectively important because they cause substantial morbidity and mortality, and because… (More)
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1979
1979
Ganglioside storage diseases are inherited defects of lysosomal hydrolases that result in intralysosomal accumulation of… (More)
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Highly Cited
1968
Highly Cited
1968
A profound deficiency (10- to 30-fold) of beta-galactosidase activity was found in tissues (liver, spleen, kidney, and brain… (More)
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