|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
|
25673129 |
2015 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
|
25526786 |
2014 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.
|
23531252 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
|
23430493 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
|
24107549 |
2013 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.
|
21631931 |
2011 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Rapid progressive course of later-onset Pompe disease in Chinese patients.
|
21757382 |
2011 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
|
19542901 |
2009 |
|
Dysmorphic features
|
|
0.700 |
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 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
|
17151339 |
2007 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Sibling phenotype concordance in classical infantile Pompe disease.
|
17853454 |
2007 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pompe disease diagnosis and management guideline.
|
16702877 |
2006 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
|
16737883 |
2006 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Disease severity in children and adults with Pompe disease related to age and disease duration.
|
15985590 |
2005 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
|
12897283 |
2003 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
|
8990003 |
1997 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
|
8558570 |
1995 |
|
Dysmorphic features
|
|
0.700 |
CausalMutation
|
CLINVAR |
Glycogen storage disease type II in Israel.
|
3132435 |
1988 |