×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
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
CLINVAR
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
25741864 2015
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
"Structural and biochemical studies on Pompe disease and a ""pseudodeficiency of acid alpha-glucosidase""."
17805474 2007
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
[Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II].
26310554 2015
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
20202878 2010
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
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
CLINVAR
[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease].
21920843 2011
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Structural aspects of therapeutic enzymes to treat metabolic disorders.
19790257 2009
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.
21982629 2011
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
[Severe form of juvenile type II glycogenosis in a compound-heterozygous boy (Tyr-292--> Cys/Arg-854-->Stop)].
10528311 1999
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
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
CLINVAR
Acute progression of neuromuscular findings in infantile Pompe disease.
20472203 2010
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
15121988 2004
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Bone density in patients with late onset Pompe disease.
23843830 2012
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease.
24444888 2014
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
22194990 2011
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Morphology and function of cerebral arteries in adults with pompe disease.
25614309 2015
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
23825616 2013
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease.
21676566 2012
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: a case report.
17041744 2006
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
24107549 2013
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
High-density CT of muscle and liver may allow early diagnosis of childhood-onset Pompe disease.
21704464 2012
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
17723315 2007
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
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
CLINVAR
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
18458862 2008