|
rs368438393
|
|
Glycogen storage disease type II
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
|
24715333 |
2015 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Premature pubarche in children with Pompe disease.
|
25687635 |
2015 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).
|
25173338 |
2014 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
|
23787031 |
2013 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
The emerging phenotype of long-term survivors with infantile Pompe disease.
|
22538254 |
2012 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
|
20080426 |
2010 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.
|
20830524 |
2010 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.
|
20830524 |
2010 |
|
rs368438393
|
|
Glycogen storage disease type II
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
|
19862843 |
2009 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
|
19588081 |
2009 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
|
18425781 |
2008 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
|
17643989 |
2007 |
|
rs368438393
|
|
Glycogen storage disease type II
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
|
17616415 |
2007 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
|
17723315 |
2007 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
|
16782080 |
2006 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Two clinical forms of glycogen-storage disease type II in two generations of the same family.
|
16433701 |
2006 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
|
15668445 |
2005 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
|
14695532 |
2004 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
|
15145338 |
2004 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
|
14972326 |
2004 |
|
rs368438393
|
|
Glycogen storage disease type II
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
|
15145338 |
2004 |
|
rs368438393
|
|
Glycogen storage disease type II
|
|
0.800 |
GeneticVariation
|
UNIPROT |
New GAA mutations in Japanese patients with GSDII (Pompe disease).
|
14643388 |
2003 |