Lysosomal alpha-Glucosidase

Known as: alpha-Glucosidase, Lysosomal, Acid Maltase, Lysosomal alpha Glucosidase 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1967-2017
024619672017

Papers overview

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2008
2008
We characterized 29 unrelated patients presenting with the severe form of Pompe disease (Glycogen Storage Disease Type II, acid… (More)
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2007
2007
Adult-onset acid maltase deficiency is an inherited lysosomal skeletal-muscle disease characterized by progressive myopathy and… (More)
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Highly Cited
2005
Highly Cited
2005
Glycogen storage disease type II (GSD-II; Pompe disease) is caused by a deficiency of acid alpha-glucosidase (GAA; acid maltase… (More)
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Highly Cited
2000
Highly Cited
2000
“Lysosomal glycogen storage disease with normal acid maltase”, which was originally described by Danon et al., is characterized… (More)
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Highly Cited
2000
Highly Cited
2000
OBJECTIVE To characterize the phenotypes of patients with juvenile and adult-onset acid maltase deficiency (AMD) in the French… (More)
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Highly Cited
1998
Highly Cited
1998
In a male infant who had cardiomyopathy, generalized muscle weakness and increased serum creatine kinase levels, his muscle… (More)
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1994
1994
Lysosomal glycogen storage in muscle with normal acid maltase activity is a rare inherited condition characterized by… (More)
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1985
1985
Two siblings who developed adult form acid maltase deficiency (AMD) are reported. The elder sister, a 30-year-old Japanese woman… (More)
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1983
1983
Progressive muscle weakness in acid maltase deficiency (AMD) is associated with intralysosomal accumulation of glycogen and… (More)
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1975
1975
Tissues from the cerebral cortex, liver and myocardium of a patient with Lafora disease were obtained at autopsy and were studied… (More)
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