Condition: Glycogen storage disease type Ia


rs104894563 in G6PC gene and Glycogen storage disease type Ia PMID 11739393 2002 The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.

PMID 8211187 1993 Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

PMID 10874313 2000 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.

PMID 10070617 1999 Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.

PMID 12373566 2002 Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

PMID 7573034 1995 Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

PMID 18083610 2008 Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease.

PMID 11310582 2001 Glycogen storage disease type Ia: molecular study in Brazilian patients.

PMID 10834516 2000 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.

PMID 7525963 1994 Mutation analysis in 600 French cystic fibrosis patients.

PMID 8733042 1996 Mutation analysis in 24 French patients with glycogen storage disease type 1a.

PMID 10738525 1999 Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.

PMID 9705299 1998 Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase.

PMID 9359038 1998 Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients.

PMID 16435186 2005 Mutation spectrum of type I glycogen storage disease in Hungary.

PMID 11916325 2001 Glucose-6-phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia.

PMID 23352793 2013 Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.

PMID 21983240 2012 New insights into the organisation and intracellular localisation of the two subunits of glucose-6-phosphatase.

PMID 17994282 2007 Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

PMID 25308557 2015 Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type I.

PMID 11596659 2001 A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia.

PMID 15542400 2004 Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.

PMID 10447271 1999 Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.

PMID 11058903 2000 Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.

PMID 28397058 2017 Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.

PMID 10748407 2000 Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells.

PMID 7623438 1995 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.

PMID 8182131 1994 Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

PMID 7744838 1995 Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

PMID 12093795 2002 The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis.

PMID 8734807 1996 Molecular prenatal diagnosis of glycogen storage disease type Ia.

PMID 25333069 2014 Disease variants in genomes of 44 centenarians.

PMID 10612834 2000 Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.

PMID 7814621 1995 Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

PMID 21599942 2011 Glucose-6-phosphatase deficiency.

PMID 24385852 2013 Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.

PMID 9332655 1997 Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

PMID 24082139 2013 Personalized genomic disease risk of volunteers.

PMID 15316959 2004 Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.

PMID 23312056 2013 Glycogen storage disease type Ia: linkage of glucose, glycogen, lactic acid, triglyceride, and uric acid metabolism.

PMID 18008183 2007 Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.

PMID 10797430 2000 Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

PMID 7655466 1995 Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.

PMID 10604148 1999 Hypercalcaemia in glycogen storage disease type Ia: a case with R83H and 341delG mutations.

PMID 10944847 2000 Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia.

PMID 18449899 2008 Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

PMID 10094563 1999 Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.

PMID 15455297 2004 Hydropericardium causing sudden infant death in glycogenosis type I: osmotic injury due to percutaneous silastic catheterization.

PMID 23046672 2013 Molecular characterization of hepatocellular adenomas developed in patients with glycogen storage disease type I.

PMID 9001800 1996 Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family.

PMID 24980439 2015 Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.

PMID 11161844 2001 Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan.

PMID 28360385 2017 Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.

PMID 10094563 1999 Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.

PMID 11949931 2002 Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

PMID 19762333 2009 Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.

PMID 19541498 2009 Emerging therapies for glycogen storage disease type I.

PMID 10960498 2000 Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.

PMID 24565827 2014 Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib.

PMID 28659124 2017 Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.

PMID 11386847 2001 Molecular genetics of type 1 glycogen storage disease.

PMID 10234610 1999 Glycogen storage disease type 1a in three siblings with the G270V mutation.

PMID 7668282 1995 Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan.

PMID 23486339 2013 Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes.

PMID 9630072 1998 Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a.

PMID 23000067 2012 A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia.

PMID 22899091 2013 Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.