GAA gene

Known as: ALPHA-GLUCOSIDASE, ACID, GAA, glycogen storage disease type II 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1980-2018
051019802018

Papers overview

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2012
2012
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a dynamic GAA repeat expansion mutation… (More)
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2008
Highly Cited
2008
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to… (More)
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2008
2008
The intronic GAA repeat expansion in the frataxin (FXN) gene causes the hereditary neurodegenerative disorder Friedreich ataxia… (More)
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2007
Highly Cited
2007
Pompe disease, which results from mutations in the gene encoding the glycogen-degrading lysosomal enzyme acid alpha -glucosidase… (More)
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2006
2006
We have previously shown that GAA trinucleotide repeats have undergone significant expansion in the human genome. Here we present… (More)
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2004
2004
Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid alpha… (More)
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2004
2004
Friedreich ataxia is caused by the expansion of a polymorphic and unstable GAA triplet repeat in the FRDA gene, but the… (More)
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2002
2002
The pMGA genes of the avian respiratory pathogen Mycoplasma gallisepticum encode a family of hemagglutinins that are subject to… (More)
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2000
Highly Cited
2000
Large expansions of the trinucleotide repeat GAA*TTC within the first intron of the X25 (frataxin) gene cause Friedreich's ataxia… (More)
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1990
1990
Acid maltase or acid alpha-glucosidase (GAA) is a lysosomal enzyme that hydrolyzes glycogen to glucose and is deficient in… (More)
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