|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Late-onset Pompe disease with complicated intracranial aneurysm: a Chinese case report.
|
27099502 |
2016 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.
|
27170567 |
2016 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
|
27711114 |
2016 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
|
27189384 |
2016 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
|
25783438 |
2016 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Multiple, Successful Pregnancies in Pompe Disease.
|
26572913 |
2016 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.
|
27183828 |
2016 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
|
25741864 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
[Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II].
|
26310554 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
|
24715333 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Morphology and function of cerebral arteries in adults with pompe disease.
|
25614309 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.
|
26160551 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
[Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].
|
26575883 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Autophagy in Natural History and After ERT in Glycogenosis Type II.
|
25712382 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
|
25626711 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Autophagy in Natural History and After ERT in Glycogenosis Type II.
|
25712382 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient.
|
26199952 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
They had low levels of GAA activity and developed late onset Pompe disease.
|
25681614 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
|
25243733 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Premature pubarche in children with Pompe disease.
|
25687635 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
|
25626711 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
|
25673129 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants.
|
25455803 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
They had low levels of GAA activity and developed late onset Pompe disease.
|
25681614 |
2015 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
|
24715333 |
2015 |