|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
If compared with infantile AMD (Pompe's disease) our cases have a much higher residual acid alpha-glucosidase activity and show the presence of an antigenically detectable protein.
|
60470 |
1976 |
|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
alpha-glucosidase activity in human leucocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state.
|
361294 |
1978 |
|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Hybrids between thymidine kinase-deficient mouse cells and fibroblasts from a patient with Pompe disease that contained human chromosome 17 were found not to express human acid alpha-glucosidase.
|
388444 |
1979 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
The lysosomal enzyme acid alpha glucosidase (GAA) or acid maltase is deficient in glycogen storage disease type II.
|
1684505 |
1991 |
|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These studies emphasize the effect of allelic diversity on the level of residual acid alpha-glucosidase activity and on the clinical course of glycogenosis type II.
|
2403755 |
1990 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid alpha-glucosidase in chorionic villous biopsy using antibodies.
|
3098466 |
1986 |
|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A unique family is presented which consists of a patient with the juvenile muscular dystrophy form of glycogenosis type II and four healthy individuals, both parents and sisters, with low acid alpha-glucosidase activity.
|
3282727 |
1988 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Total RNA from a patient with the adult form of glycogenosis type II is not able to direct the synthesis of normal amounts of alpha-glucosidase in vitro.
|
3315002 |
1987 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic deficiency of acid alpha-glucosidase results in glycogen-storage disease type II, encompassing a spectrum of disorders of varying severity.
|
3540946 |
1986 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Diagnosis of Pompe's disease using leukocyte preparations. Kinetic and immunological studies of 1,4-alpha-glucosidase in human fetal and adult tissues and cultured cells.
|
3891151 |
1985 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Demonstration of acid alpha-glucosidase in different types of Pompe disease by use of an immunochemical method.
|
6442343 |
1985 |
|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The adult form of acid maltase deficiency appears to be both clinically and genetically rather homogeneous; decrease of alpha-glucosidase activity is the final common pathway leading to destruction of muscle fibers and progression of muscle weakness over a period of years.
|
7668832 |
1995 |
|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The recessively inherited deficiency of acid alpha-glucosidase (GAA) called Glycogenosis Type II is expressed as three different phenotypes: infantile, juvenile, and adult.
|
9259196 |
1997 |
|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.
|
9266392 |
1997 |
|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
A review of the 11 previously published pedigrees of lysosomal glycogen storage disease with normal in vitro alpha-glucosidase activity allows the delineation of three clinical entities: juvenile and neonatal pseudo-Pompe diseases and partial Pompe disease.
|
9382133 |
1997 |
|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These data demonstrate high-level, lysosomal expression of recombinant acid alpha-glucosidase in treated target tissues and support the feasibility of gene replacement strategies for Pompe disease.
|
9614571 |
1998 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
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 |
|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
|
9736771 |
1998 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Glycogen storage disease type II (GSDII) is an autosomal recessive disorder resulting from inherited deficiency of the enzyme lysosomal acid alpha-glucosidase.
|
10071199 |
1999 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic deficiency of lysosomal acid alpha-glucosidase (acid maltase) results in the autosomal recessive disorder glycogen storage disease type II (GSDII) in which intralysosomal accumulation of glycogen primarily affects function of skeletal and cardiac muscle.
|
10377006 |
1999 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase.
|
10430861 |
1999 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.
|
10545593 |
1999 |
|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Glycogen storage disease type II (GSD II) is an autosomal recessive inherited disorder due to the deficiency of the enzyme acid alpha-glucosidase, which causes an accumulation of glycogen in lysosomes.
|
10899751 |
2000 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.
|
11268285 |
2001 |
|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Glycogen storage disease type II (GSDII) results from deleterious mutations in acid alpha-glucosidase gene.
|
11343339 |
2001 |