Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Enzyme-replacement therapy (ERT) with recombinant human acid alpha-glucosidase (rhGAA) has been effective in most patients with Pompe disease, but efficacy was reduced by high-titer antibody responses.
|
19690517 |
2010 |
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, it was difficult to distinguish newborns with c.[1726G>A; 2965G>A] alleles from newborns with pre-symptomatic Pompe disease using AαGlu assays in DBSs or fibroblasts; GAA gene sequencing was necessary.
|
31076647 |
2019 |
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease (PD) is a metabolic myopathy caused by a deficiency of acid-alpha glucosidase (GAA), a lysosomal enzyme that cleaves glycogen.
|
20830524 |
2010 |
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 |
We tested the encapsulation strategy on four enzymes currently investigated for enzyme replacement therapy: palmitoyl protein thioesterase 1 (PPT1; defective in NCL1 disease), galactosylceramidase (GALC; defective in globoid cell leukodystrophy), alpha glucosidase (aGLU; defective in Pompe disease), and beta glucosidase (bGLU; defective in Gaucher's disease).
|
29894633 |
2018 |
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Glycogen storage disease type II (Pompe disease) is inherited by autosomal recessive transmission and caused by a deficiency of acid alpha-glucosidase (GAA), resulting in impaired degradation and lysosomal accumulation of glycogen.
|
14643388 |
2003 |
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease is due to deficiency in acid α-glucosidase (GAA) leading to lysosomal accumulation of glycogen in all cell types, abnormal myofibrillogenesis, respiratory insufficiency, neurological deficits, and reduced contractile function in striated muscle.
|
27855487 |
2016 |
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA).
|
26873529 |
2016 |
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease is characterised by deficiency of acid α-glucosidase that results in abnormal glycogen deposition in the muscles.
|
23632174 |
2013 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
The primary objective of this study was to assess the safety of rAAV1-CMV-hGAA vector delivered to the diaphragm muscle of Pompe disease subjects with ventilatory insufficiency.
|
29160099 |
2017 |
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
|
16005263 |
2005 |
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 |
Biomarker
|
disease |
BEFREE |
The complete lack of 1-4 alpha-glucosidase (glycogen storage disease type II (GSD II) or Pompe disease) is life-threatening.
|
12633905 |
2003 |
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of variants in the acid α-glucosidase (GAA) gene in Pompe disease provides valuable insights and systematic overviews are needed.
|
31342611 |
2019 |
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Adjunctive β2-agonist treatment reduces glycogen independently of receptor-mediated acid α-glucosidase uptake in the limb muscles of mice with Pompe disease.
|
24448824 |
2014 |
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 |
Biomarker
|
disease |
BEFREE |
To evaluate whether immunomodulation at start of enzyme replacement therapy induces immune tolerance to recombinant human acid alpha-glucosidase (rhGAA) in patients with classic infantile Pompe disease.
|
29428273 |
2018 |
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.
|
16987711 |
2006 |
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 |
AlteredExpression
|
disease |
BEFREE |
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
|
17213836 |
2007 |
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 |
AlteredExpression
|
disease |
BEFREE |
Glc(4) is also useful as an adjunctive diagnostic test for Pompe disease when performed in conjunction with acid alpha-glucosidase activity measurements.
|
22252961 |
2012 |
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Glycogen storage disease type II (GSDII) is a recessively inherited disorder due to the deficiency of acid alpha-glucosidase (GAA) that results in impaired glycogen degradation and its accumulation in the lysosomes.
|
16917947 |
2006 |