×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Infantile-onset glycogen storage disease type II , or Pompe disease , results from a genetic deficiency of the lysosomal enzyme acid alpha glucosidase (GAA ).
1652892 1991
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Human lysosomal alpha-glucosidase. Characterization of the catalytic site.
1856189 1991
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male.
1895140 1991
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II .
1898413 1991
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
Long term survival after intensive care.
2252923 1990
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
[The physiology of bed rest].
2510307 1989
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
3049072 1988
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
[A new treatment principle in the therapy of postoperative paralytic ileus].
5614309 1967
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
Glycogenosis type II (acid maltase deficiency).
7603530 1995
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Glycogenosis type II (acid maltase deficiency).
7603530 1995
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
7695647 1995
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II .
7717400 1995
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II .
7881422 1994
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
7881425 1994
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
7981676 1994
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
7981676 1994
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II .
8094613 1993
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II .
8401535 1993
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites.
8435067 1993
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
8558570 1995
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.
8604985 1996
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
8990003 1997
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
GeneticVariation
CLINVAR
Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.
9259196 1997
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
The African origin of the common mutation in African American patients with glycogen-storage disease type II.
9529346 1998
×
Entrez Id: 2548
Gene Symbol: GAA
GAA
Glycogen storage disease type II
1.000
CausalMutation
CLINVAR
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
9535769 1998