|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Late-onset pompe disease in Iran: A clinical and genetic report.
|
27649523 |
2017 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
|
27189384 |
2016 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.
|
27170567 |
2016 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
|
26231297 |
2015 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
|
24150945 |
2014 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency.
|
24590251 |
2014 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypical variation within 22 families with Pompe disease.
|
24245577 |
2013 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
|
22676651 |
2012 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
The impact of antibodies in late-onset Pompe disease: a case series and literature review.
|
22613277 |
2012 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pompe disease: design, methodology, and early findings from the Pompe Registry.
|
21439876 |
2011 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Late form of Pompe disease with glycogen storage in peripheral nerves axons.
|
21109266 |
2011 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
|
17210890 |
2007 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
|
16917947 |
2006 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
|
14695532 |
2004 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
|
7717400 |
1995 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
|
7881425 |
1994 |
|
Glycogen storage disease type II
|
|
0.700 |
CausalMutation
|
CLINVAR |
[The physiology of bed rest].
|
2510307 |
1989 |