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

Related topics

Related topics

26 relations
Alpha-glucosidaseAutosomal recessive inheritanceCerebral arterial aneurysmConditions tested for in this newborn screening study:ID:Pt:Bld.dot:Nom
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Narrower (1)

Cardiac form of generalized glycogenosis

Broader (1)

Glycogen Storage Disease

Papers overview

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2012
2012
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)
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
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
BACKGROUND Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere… (More)
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2005
2005
Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.
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
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
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
Recombinant human acid α-glucosidase enzyme therapy for infantile glycogen storage disease type II: Results of a phase I/II clinical trial
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
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling
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
A diagnostic protocol for adult-onset glycogen storage disease type II.
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
Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.
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: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
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
A severe combined immunodeficiency mutation in the mouse
The most debilitating human lymphoid deficiency disease, known as severe combined immunodeficiency (SCID), impairs the… (More)
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