×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
They had low levels of GAA activity and developed late onset Pompe disease .
25681614
2015
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
In a cross-sectional single-centre study we clinically assessed 3 patients with classic infantile Pompe disease and 39 patients with non-classic presentations, measured their acid alpha-glucosidase activities and analysed their GAA genes.
22676651
2012
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
22644586
2012
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Late form of Pompe disease with glycogen storage in peripheral nerves axons.
21109266
2011
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Screening of late-onset Pompe disease in a sample of Mexican patients with myopathies of unknown etiology: identification of a novel mutation in the acid alpha-glucosidase gene.
20350966
2010
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Therefore, newborn screening for Pompe disease could be successfully conducted by including genotyping and lymphocyte GAA assay, even in a population with mutation heterozygosity and pseudodeficiency.
20080426
2010
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Pompe disease (glycogen storage disease type II or acid maltase deficiency ) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA ), with predominant manifestations of skeletal muscle weakness.
19588081
2009
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
The Pompe disease mutation database aims to list all GAA sequence variations and describe their effect.
18425781
2008
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease .
18429042
2008
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
17643989
2007
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Two clinical forms of glycogen-storage disease type II in two generations of the same family.
16433701
2006
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
We report here the complete molecular analysis of the GAA gene performed on 40 Italian patients with late onset GSDII .
16917947
2006
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
16782080
2006
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
15668445
2005
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Glycogenosis type II (GSDII ) is an autosomal recessive disorder due to the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA ).
14972326
2004
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA ) underscore the genotype-phenotype correlation in glycogen storage disease type II .
14695532
2004
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
15145338
2004
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
New GAA mutations in Japanese patients with GSDII (Pompe disease ).
14643388
2003
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
12923862
2003
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
12601120
2003
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
11738358
2002
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
11071489
2000
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
10189220
1999
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Pompe disease is caused by mutations in the acid alpha-glucosidase (GAA ) gene.
10338092
1999
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
UNIPROT
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
10737124
1998