|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pompe disease (PD) is an autosomal recessive, lysosomal storage disease due to a mutation of the acid α-glucosidase (GAA) gene.
|
29523196 |
2018 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.
|
30049495 |
2018 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Overall, these data suggest that PI-rhGAA may have the potential to be a useful therapeutic option for improving the treatment of Pompe disease.
|
29102549 |
2018 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
The M6PgP-conjugated rGAA had a 16-fold higher content of M6P glycan than rGAA, which resulted in greatly increased cellular uptake and efficient digestion of glycogen accumulated in Pompe disease patient fibroblasts.
|
29880804 |
2018 |
|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pompe disease (PD) is a rare condition caused by mutations in gene encoding for the enzyme alpha-glucosidase, resulting in an abnormal intracellular accumulation of glycogen.
|
30166092 |
2018 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of the lysosomal enzyme acid α-glucosidase (GAA) causes Pompe disease.
|
28450385 |
2017 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
|
28196920 |
2017 |
|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Glycogen storage disease type II (GSDII) is a lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme, leading to the accumulation of glycogen within the lysosomes.
|
28629821 |
2017 |
|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Pompe disease is an autosomal recessive disorder in which deficiency of the lysosomal enzyme acid alpha-glucosidase results in the accumulation of glycogen mostly in muscle tissues.
|
28856460 |
2017 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recombinant human Acid Alpha Glucosidase (GAA) is the therapeutic enzyme used for the treatment of Pompe disease, a rare genetic disorder characterized by GAA deficiency in the cell lysosomes (Raben et al., Curr Mol Med.2002; 2:145-166).
|
28249362 |
2017 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.
|
29187643 |
2017 |
|
Generalized glycogen storage disease of infants
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Newborn screening (NBS) for Pompe disease is done through analysis of acid α-glucosidase (GAA) activity in dried blood spots.
|
29162674 |
2017 |
|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we introduced a gene encoding recombinant human acid α-glucosidase (rhGAA), which is used in ERT for Pompe disease, into gnt1 rice callus by particle bombardment.
|
28363873 |
2017 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our data suggest that co-administration of SVP-Rapa may be an innovative and safe strategy to induce durable immune tolerance to rhGAA during the ERT in patients with Pompe disease, leading to improved clinical outcomes.
|
28761815 |
2017 |
|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most common variant causing Pompe disease is c.-32-13T>G (IVS1) in the acid α-glucosidase (GAA) gene, which weakens the splice acceptor of GAA exon 2 and induces partial and complete exon 2 skipping.
|
28624228 |
2017 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease (PD) is a lysosomal storage disease that is caused by a deficiency of the acid α-glucosidase, which results in glycogen accumulation in the lysosome.
|
28170191 |
2017 |
|
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 |
A promising therapeutic perspective for PD is enzyme replacement therapy (ERT) with the human recombinant enzyme acid alpha-glucosidase (Myozyme®).
|
26690841 |
2016 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
We tested several compounds in order to identify novel small molecules that prevent premature degradation of the mutant lysosomal enzymes α-galactosidase A (for Fabry disease (FD)) and acid α-glucosidase (GAA) (for Pompe disease (PD)).
|
25409744 |
2015 |
|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of acid alpha glucosidase (GAA) causes Pompe disease in which the patients systemically accumulate lysosomal glycogen in muscles and nervous systems, often resulting in infant mortality.
|
26053072 |
2015 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen.
|
26471939 |
2015 |
|
Generalized glycogen storage disease of infants
|
0.100 |
Biomarker
|
disease |
BEFREE |
Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning.
|
26390092 |
2015 |
|
Generalized glycogen storage disease of infants
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Application of this approach to one novel and six previously published variants in the acid-alpha glucosidase (GAA) gene causing Pompe disease enabled detection of a total of 11 novel splicing events.
|
25243733 |
2015 |