×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
21484825
2011
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
CRIM-negative infantile Pompe disease: 42-month treatment outcome.
20882352
2010
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
19588081
2009
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
17056254
2007
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
16860134
2006
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
New GAA mutations in Japanese patients with GSDII (Pompe disease).
14643388
2003
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
Correction of the enzymatic and functional deficits in a model of Pompe disease using adeno-associated virus vectors.
11991748
2002
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders.
10973860
2000
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
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
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.
9668092
1998
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
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 IIIC
0.300
Biomarker
CLINGEN
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 IIIC
0.300
Biomarker
CLINGEN
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 IIIC
0.300
Biomarker
CLINGEN
Human lysosomal alpha-glucosidase. Characterization of the catalytic site.
1856189
1991
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
3108320
1987
×
Entrez Id:
2548
Gene Symbol:
GAA
GAA
Glycogen Storage Disease IIIC
0.300
Biomarker
CLINGEN
The subcellular distribution of enzymes in type II glycogenosis and the occurrence of an oligo-alpha-1,4-glucan glucohydrolase in human tissues.
4286143
1965