|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
|
20080426 |
2010 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
|
19588081 |
2009 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
|
18429042 |
2008 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
|
18425781 |
2008 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
|
17643989 |
2007 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
|
16782080 |
2006 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two clinical forms of glycogen-storage disease type II in two generations of the same family.
|
16433701 |
2006 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype.
|
15668445 |
2005 |
|
Glycogen storage disease type II
|
|
0.700 |
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 |
|
Glycogen storage disease type II
|
|
0.700 |
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 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
New GAA mutations in Japanese patients with GSDII (Pompe disease).
|
14643388 |
2003 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
|
12923862 |
2003 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
|
11738358 |
2002 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
|
11071489 |
2000 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.
|
9521422 |
1998 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
|
10737124 |
1998 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype.
|
8834250 |
1996 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a de novo point mutation resulting in infantile form of Pompe's disease.
|
7695647 |
1995 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II.
|
8401535 |
1993 |
|
Glycogen storage disease type II
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele.
|
1684505 |
1991 |