|
Glycogen Storage Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
|
15316959 |
2004 |
|
Glycogen Storage Disease
|
|
0.710 |
CausalMutation
|
CLINVAR |
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
|
8211187 |
1993 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I.
|
25308557 |
2015 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Disease variants in genomes of 44 centenarians.
|
25333069 |
2014 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism.
|
23312056 |
2013 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.
|
24385852 |
2013 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Glucose-6-phosphatase deficiency.
|
21599942 |
2011 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.
|
18008183 |
2007 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
|
15316959 |
2004 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.
|
11739393 |
2002 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
|
12373566 |
2002 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.
|
12093795 |
2002 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Glycogen storage disease type Ia: molecular study in Brazilian patients.
|
11310582 |
2001 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
|
10874313 |
2000 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.
|
10612834 |
2000 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
|
10834516 |
2000 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.
|
9332655 |
1997 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular prenatal diagnosis of glycogen storage disease type Ia.
|
8734807 |
1996 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
|
7814621 |
1995 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.
|
7623438 |
1995 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
|
7573034 |
1995 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
|
7744838 |
1995 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
|
8182131 |
1994 |
|
Glycogen storage disease type Ia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.
|
8211187 |
1993 |