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Gangliosidosis, Generalized GM1, Type 1 (disorder)

Known as: Gangliosidosis GM1, Infantile, Type I GM1-Gangliosidoses, Generalized Gangliosidosis 
 
National Institutes of Health

Papers overview

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2015
2015
GM1 gangliosidosis (GM1) is an inherited neurodegenerative disorder caused by mutations in the lysosomal β-galactosidase (β-gal… Expand
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Highly Cited
2013
Highly Cited
2013
Lysosomal β-galactosidase (β-Gal) deficiency causes a group of disorders that include neuronopathic GM1 gangliosidosis and non… Expand
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2012
2012
Deficiencies of lysosomal β-D-galactosidase can result in GM1 gangliosidosis, a severe neurodegenerative disease characterized by… Expand
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Highly Cited
2010
Highly Cited
2010
Alterations in the metabolism of amyloid precursor protein (APP) are believed to play a central role in Alzheimer disease… Expand
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2009
2009
Alterations in GLB1, the gene coding for acid beta-D-galactosidase (beta-Gal), can result in GM1 gangliosidosis (GM1), a… Expand
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2007
2007
The present study investigated cerebrospinal fluid (CSF) biomarkers for estimating degeneration of the central nervous system… Expand
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2006
2006
GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase… Expand
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2004
2004
A myelin deficit in the cerebral white matter in infantile GM1 gangliosidosis is well established. Some have proposed this… Expand
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1981
1981
An infant with GM1 gangliosidosis was found to have an eruption at birth consisting of extensive and unusual slate blue macules… Expand
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1972
1972
 
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