Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
|
31076647 |
2019 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.
|
29451150 |
2018 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
|
29124014 |
2018 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Pompe Disease Could Mimic Exam Findings of Amyloidosis: Two Rare Diagnoses Bona Fide.
|
30510819 |
2018 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
|
30023291 |
2018 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
|
29181627 |
2018 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
|
29181627 |
2018 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.
|
28394184 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
[Clinical and gene mutation analysis of three children with late-onset glycogen storage disease type Ⅱ with hypertrophic cardiomyopathy].
|
28592009 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.
|
28648663 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
|
27142047 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.
|
27344650 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.
|
28450385 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Skeletal muscle metabolism during prolonged exercise in Pompe disease.
|
28490439 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
|
27708273 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
|
29122469 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.
|
28394184 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Late-onset pompe disease in Iran: A clinical and genetic report.
|
27649523 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
|
29122469 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
New mutations and genotype-phenotype correlation in late-onset Pompe patients.
|
28032299 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.
|
27344650 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.
|
28196920 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
CausalMutation |
CLINVAR |
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
|
28657663 |
2017 |
Entrez Id: |
2548 |
Gene Symbol: |
GAA |
GAA
|
Glycogen storage disease type II
|
1.000 |
GeneticVariation |
CLINVAR |
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
|
26497565 |
2016 |