|
Glycogen storage disease type II
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pompe disease (PD) is a monogenic disorder caused by mutations in the acid alpha-glucosidase gene (<i>Gaa</i>).
|
31392199 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Gene therapy for Pompe disease with adeno-associated virus (AAV) vectors has advanced into early phase clinical trials; however, the paucity of cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle, where it is needed to take up acid α-glucosidase (GAA), has impeded the efficacy of Pompe disease gene therapy.
|
30803275 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease-associated variants in the acid alpha-glucosidase (GAA) gene.
|
31254424 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Glycogen storage disease II (GSDII), also called Pompe disease, is an autosomal recessive inherited disease caused by a defect in glycogen metabolism due to the deficiency of the enzyme acid alpha-glucosidase (GAA) responsible for its degradation.
|
31301153 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Regulation of α-glucosidase (EC 3.2.1.20) and its inhibitors is of great interest to researchers due to its clinical relevance as a target enzyme for the treatment of α-glucosidase-mediated diseases, such as type 2 diabetes mellitus and Pompe disease.
|
30503787 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recombinant human acid α-glucosidase (Myozyme) is the only drug approved by the United States Food and Drug Administration for the treatment of Pompe disease.
|
30877930 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Neonatal screening for Pompe disease is complicated by difficulties in predicting symptom onset in patients with the common c.-32-13T>G (IVS1) variant/null (i.e. fully deleterious) acid α-glucosidase (GAA) genotype.
|
30922962 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We present a computational model for predicting mutational impact on enzymatic activity of human acid α-glucosidase (GAA), an enzyme associated with Pompe disease.
|
31228295 |
2019 |
|
Glycogen storage disease type II
|
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 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults.
|
30832705 |
2019 |
|
Glycogen storage disease type II
|
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 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease (PD) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acid-alpha glucosidase (GAA).
|
31392201 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Pompe disease (PD) is an autosomal recessive lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the <i>GAA</i> gene.
|
31392190 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
We performed genetic analysis to confirm the diagnosis of Pompe disease in a 61-year-old patient with progressive weakness in extremities, severe Sleep Apnea-Hypopnea Syndrome, a significant reduction of alpha-glucosidase in liquid sample of peripheral blood and muscular biopsy diagnosis.
|
30770309 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease is a neuromuscular disease caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase leading to lysosomal and cytoplasmic glycogen accumulation in neurons and striated muscle.
|
31392202 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease is an autosomal recessive lysosomal storage disease caused by acid α-glucosidase (GAA) deficiency, resulting in intralysosomal accumulation of glycogen, including cardiac, skeletal, and smooth muscle cells.
|
30281819 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
For example, glucose-6-phosphatase (G6Pase) deficiency in GSD type Ia (GSD Ia) affects primarily the liver and kidney, while acid α-glucosidase (GAA) deficiency in GSD II causes primarily muscle disease.
|
31227835 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Glycogen storage disease type II (GSD II) is caused by acid alpha-glucosidase (GAA) deficiency.
|
31439017 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease is a rare inherited disorder of lysosomal glycogen metabolism due to acid α-glucosidase (GAA) deficiency.
|
30843882 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease (PD) is caused by the deficiency of the lysosomal enzyme acid α-glucosidase (GAA), resulting in systemic pathological glycogen accumulation.
|
31298581 |
2019 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
Pompe disease results from lysosomal acid α-glucosidase (GAA) deficiency and its associated glycogen accumulation and muscle damage.
|
29565424 |
2018 |
|
Glycogen storage disease type II
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Pompe disease (PD) is caused by a deficiency of lysosomal acid α-glucosidase resulting from mutations in the GAA gene.
|
30155607 |
2018 |
|
Glycogen storage disease type II
|
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 |
|
Glycogen storage disease type II
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study proposed a rice cell-based glycoengineering strategy using two different mannosidase inhibitors, kifunensine (KIF) and swainsonine (SWA), to increase Man7/8/9 glycoforms of recombinant human acid α-glucosidase (rhGAA), which is a therapeutic enzyme for Pompe disease.
|
30382146 |
2018 |
|
Glycogen storage disease type II
|
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 |