Gangliosidosis GM1

Known as: Gangliosidosis G(M1), Beta-Galactosidase-1 Deficiency Disease, Beta-Galactosidosis 
An autosomal recessive neurodegenerative disorder caused by the absence or deficiency of BETA-GALACTOSIDASE. It is characterized by intralysosomal… (More)
National Institutes of Health

Papers overview

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2011
2011
Filipin is an antibiotic polyene widely used as a histochemical marker for cholesterol. We previously reported cholesterol… (More)
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2010
2010
GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset… (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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2008
2008
GM1 gangliosidosis is an inherited neurodegenerative disorder caused by lysosomal beta-galactosidase deficiency, resulting in the… (More)
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2005
2005
II3NeuAc-GgOse4Cer (GM1) gangliosidosis is an incurable lysosomal storage disease caused by a deficiency in acid beta… (More)
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Highly Cited
2003
Highly Cited
2003
We synthesized a galactose derivative, N-octyl-4-epi-beta-valienamine (NOEV), for a molecular therapy (chemical chaperone therapy… (More)
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1998
1998
Late infantile GM1 gangliosidosis is an extremely rare metabolic disorder with clinical features of seizure and progressive motor… (More)
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1997
1997
GM1 gangliosidosis (McKusick 230500) is characterized biochemically by a deficiency of the lysosomal enzyme β -galactosidase (EC… (More)
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1996
1996
N-Acetylgalactosamine-6-sulfate sulfatase (GALNS) catalyzes the first step of intralysosomal keratan sulfate (KS) catabolism. In… (More)
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1992
1992
Magnetic resonance imaging (MRI), pathologic examinations, and biochemical analyses were performed on 2 different canine mutants… (More)
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