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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

Related topics

Related topics

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

Narrower (1)

Cardiac form of generalized glycogenosis

Broader (1)

Glycogen Storage Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
Molecular diagnosis of German patients with late-onset glycogen storage disease type II
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
Terminal Nucleotidyl Transferase Activity of RecombinantFlaviviridae RNA-Dependent RNA Polymerases: Implication for Viral RNA Synthesis
ABSTRACT Recombinant hepatitis C virus (HCV) RNA-dependent RNA polymerase (RdRp) was reported to possess terminal transferase… 
Highly Cited
2001
Highly Cited
2001
Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease.
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
Genetically corrected autologous stem cells engraft, but host immune responses limit their utility in canine alpha-L-iduronidase deficiency.
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
Further Analysis of Intraspecific Sequence Variation of Chloroplast DNA in Primula cuneifolia Ledeb. (Primulaceae): Implications for Biogeography of the Japanese Alpine Flora
Primula cuneifolia Ledeb. (Primulaceae), we analyzed intraspecific variation of the nucleotide sequences of non-coding regions of… 
Highly Cited
1997
Highly Cited
1997
Intraspecific sequence variation of chloroplast DNA inPedicularis chamissonis Steven (Scrophulariaceae) and geographic structuring of the Japanese “Alpine” plants
In order to clarify evolutionary patterns and processes of intraspecific diversification ofPedicularis chamissonis Steven, we… 
Highly Cited
1989
Highly Cited
1989
Rapid, nonradioactive detection of mutations in the human genome by allele-specific amplification.
A simple, rapid, nonradioactive method has been developed to facilitate the direct detection of point mutations that cause… 
Highly Cited
1984
Highly Cited
1984
Codon context effects in missense suppression.
Highly Cited
1984
Highly Cited
1984
Isolation of a homogeneous glucosidase II from pig kidney microsomes.
The processing of the oligosaccharide precursor chain, (GlcNAc)2(Man)9(Glc)3, of N-glycosylated glycoproteins starts with the… 
1984
1984
Rapid prenatal diagnosis of glycogen-storage disease type II by electron microscopy of uncultured amniotic-fluid cells.
Glycogen-storage disease Type IIa is a fatal, genetically determined disease of infancy or early childhood that is characterized… 
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