|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
GeneticVariation |
CLINVAR |
Two new missense mutations of GAA in late onset glycogen storage disease type II.
|
17092519 |
2006 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
GeneticVariation |
CLINVAR |
Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients.
|
23884227 |
2013 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
GeneticVariation |
CLINVAR |
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
|
19862843 |
2009 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
CausalMutation |
CLINVAR |
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
|
24008051 |
2014 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
CausalMutation |
CLINVAR |
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population.
|
28433475 |
2017 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
GeneticVariation |
CLINVAR |
Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population.
|
28433475 |
2017 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
GeneticVariation |
CLINVAR |
Structural aspects of therapeutic enzymes to treat metabolic disorders.
|
19790257 |
2009 |
|
| Entrez Id: |
178 |
| Gene Symbol: |
AGL |
AGL
|
Glycogen Storage Disease
|
0.430 |
GeneticVariation |
CLINVAR |
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.
|
26984562 |
2016 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
CausalMutation |
CLINVAR |
Rapid progressive course of later-onset Pompe disease in Chinese patients.
|
21757382 |
2011 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
GeneticVariation |
CLINVAR |
Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
|
20202878 |
2010 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
CausalMutation |
CLINVAR |
Pompe disease: design, methodology, and early findings from the Pompe Registry.
|
21439876 |
2011 |
|
| Entrez Id: |
2998 |
| Gene Symbol: |
GYS2 |
GYS2
|
Glycogen Storage Disease
|
0.440 |
GeneticVariation |
CLINVAR |
Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0.
|
9691087 |
1998 |
|
| Entrez Id: |
2538 |
| Gene Symbol: |
G6PC |
G6PC
|
Glycogen Storage Disease
|
0.500 |
CausalMutation |
CLINVAR |
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
|
8211187 |
1993 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
CausalMutation |
CLINVAR |
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
|
16917947 |
2006 |
|
| Entrez Id: |
2538 |
| Gene Symbol: |
G6PC |
G6PC
|
Glycogen Storage Disease
|
0.500 |
CausalMutation |
CLINVAR |
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
|
15316959 |
2004 |
|
| Entrez Id: |
5213 |
| Gene Symbol: |
PFKM |
PFKM
|
Glycogen Storage Disease
|
0.400 |
CausalMutation |
CLINVAR |
Muscle phosphofructokinase deficiency in two generations.
|
8880699 |
1996 |
|
| Entrez Id: |
2542 |
| Gene Symbol: |
SLC37A4 |
SLC37A4
|
Glycogen Storage Disease
|
0.500 |
CausalMutation |
CLINVAR |
Molecular diagnosis of type 1c glycogen storage disease.
|
10323254 |
1999 |
|
| Entrez Id: |
51399 |
| Gene Symbol: |
TRAPPC4 |
TRAPPC4
|
Glycogen Storage Disease
|
0.100 |
CausalMutation |
CLINVAR |
Molecular diagnosis of type 1c glycogen storage disease.
|
10323254 |
1999 |
|
| Entrez Id: |
2542 |
| Gene Symbol: |
SLC37A4 |
SLC37A4
|
Glycogen Storage Disease
|
0.500 |
CausalMutation |
CLINVAR |
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
|
10923042 |
2000 |
|
| Entrez Id: |
51399 |
| Gene Symbol: |
TRAPPC4 |
TRAPPC4
|
Glycogen Storage Disease
|
0.100 |
CausalMutation |
CLINVAR |
Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
|
10923042 |
2000 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
CausalMutation |
CLINVAR |
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
|
7717400 |
1995 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
CausalMutation |
CLINVAR |
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
|
21232767 |
2011 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
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
|
0.460 |
CausalMutation |
CLINVAR |
Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience.
|
25093132 |
2014 |
|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
Glycogen Storage Disease
|
0.460 |
CausalMutation |
CLINVAR |
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
|
18458862 |
2008 |