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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… 
National Institutes of Health

Papers overview

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2008
2008
SummaryIn patients with late-onset glycogen storage disease type II, one mutation, c.−32−13T>G, in the α-glucosidase (GAA) gene… 
Highly Cited
2001
Highly Cited
2001
ABSTRACT Recombinant hepatitis C virus (HCV) RNA-dependent RNA polymerase (RdRp) was reported to possess terminal transferase… 
Highly Cited
2001
Highly Cited
2001
BACKGROUND Pompe disease is an autosomal recessive disorder of glycogen metabolism that is characterized by a deficiency of the… 
Highly Cited
1999
Highly Cited
1999
Canine alpha-L-iduronidase (alpha-ID) deficiency, a model of the human storage disorder mucopolysaccharidosis type I (MPS I), is… 
Highly Cited
1999
Highly Cited
1999
Primula cuneifolia Ledeb. (Primulaceae), we analyzed intraspecific variation of the nucleotide sequences of non-coding regions of… 
Highly Cited
1997
Highly Cited
1997
In order to clarify evolutionary patterns and processes of intraspecific diversification ofPedicularis chamissonis Steven, we… 
Highly Cited
1989
Highly Cited
1989
A simple, rapid, nonradioactive method has been developed to facilitate the direct detection of point mutations that cause… 
Highly Cited
1984
Highly Cited
1984
The processing of the oligosaccharide precursor chain, (GlcNAc)2(Man)9(Glc)3, of N-glycosylated glycoproteins starts with the… 
1984
1984
Glycogen-storage disease Type IIa is a fatal, genetically determined disease of infancy or early childhood that is characterized…