Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Glycogen Storage Disease Type VII
|
0.940 |
AlteredExpression
|
disease |
BEFREE |
Mutations inhibiting PFK1 activity cause glycogen storage disease type VII, also known as Tarui disease, and mice deficient in muscle PFK1 have decreased fat stores.
|
25985179 |
2015 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Infantile form of muscle phosphofructokinase deficiency in a premature neonate.
|
26108272 |
2015 |
Glycogen Storage Disease Type VII
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene.
|
24427140 |
2013 |
Glycogen Storage Disease Type VII
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
|
22133655 |
2012 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
MGD |
Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis.
|
19696889 |
2009 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
BEFREE |
Phosphofructo-1-kinase (PFK1) is a rate limiting enzyme in glycolysis, and its muscle subtype (PFK1-M) deficiency leads to an autosomal recessively inherited disorder known as glycogenosis type VII or Tarui's disease.
|
9930938 |
1999 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
BEFREE |
Phosphofructo-1-kinase (PFK1) is a rate-limiting enzyme in glycolysis, and its muscle subtype (PFK1-M) deficiency leads to the autosomal recessively inherited glycogenosis type VII Tarui's disease.
|
9389749 |
1997 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
|
8889589 |
1996 |
Glycogen Storage Disease Type VII
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Muscle phosphofructokinase deficiency in two generations.
|
8880699 |
1996 |
Glycogen Storage Disease Type VII
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
|
8889589 |
1996 |
Glycogen Storage Disease Type VII
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
|
7825568 |
1995 |
Glycogen Storage Disease Type VII
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
|
7825568 |
1995 |
Glycogen Storage Disease Type VII
|
0.940 |
GeneticVariation
|
disease |
BEFREE |
Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.
|
7479776 |
1995 |
Glycogen Storage Disease Type VII
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
|
7825568 |
1995 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.
|
7603526 |
1995 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
|
7513946 |
1994 |
Glycogen Storage Disease Type VII
|
0.940 |
GeneticVariation
|
disease |
CLINVAR |
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
|
8037209 |
1994 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
|
8037209 |
1994 |
Glycogen Storage Disease Type VII
|
0.940 |
GeneticVariation
|
disease |
UNIPROT |
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
|
7513946 |
1994 |
Glycogen Storage Disease Type VII
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.
|
8037209 |
1994 |
Glycogen Storage Disease Type VII
|
0.940 |
CausalMutation
|
disease |
CLINVAR |
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
|
8444874 |
1993 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
CTD_human |
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
|
8444874 |
1993 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
CTD_human |
Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.
|
2140573 |
1990 |
Glycogen Storage Disease Type VII
|
0.940 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|