Glycogen storage disease type II

Known as: GAA Deficiencies, Deficiency of Alpha-Glucosidase, GAA Deficiency 
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate… (More)
National Institutes of Health

Papers overview

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2012
2012
Regulated removal of proteins and organelles by autophagy–lysosome system is critical for muscle homeostasis. Excessive… (More)
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Highly Cited
2005
Highly Cited
2005
BACKGROUND Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere… (More)
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2005
2005
Glycogen storage disease type II (GSD-II; Pompe disease) causes death in infancy from cardiorespiratory failure. The underlying… (More)
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2004
2004
BACKGROUND Glycogen storage disease II is characterized by a deficiency of the lysosomal enzyme acid alpha-glucosidase. Currently… (More)
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Highly Cited
2001
Highly Cited
2001
Purpose: Infantile glycogen storage disease type II (GSD-II) is a fatal genetic muscle disorder caused by deficiency of acid… (More)
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Highly Cited
1999
Highly Cited
1999
Glycogen storage disease type II (GSD II) is an autosomal recessive myopathy. Early and late-onset phenotypes are distinguished… (More)
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1999
1999
To analyze the diagnostic value of various laboratory tests for the confirmation of adult-onset glycogen storage disease type II… (More)
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Highly Cited
1998
Highly Cited
1998
We have used gene targeting to create a mouse model of glycogen storage disease type II, a disease in which distinct clinical… (More)
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Highly Cited
1996
Highly Cited
1996
Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous… (More)
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Highly Cited
1983
Highly Cited
1983
The most debilitating human lymphoid deficiency disease, known as severe combined immunodeficiency (SCID), impairs the… (More)
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