Condition: Glycogen Storage Disease Type I


rs104894563 in G6PC gene and Glycogen Storage Disease Type I PMID 7655466 1995 Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.

PMID 9700612 1998 Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.

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

PMID 15151508 2004 Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia.

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

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

PMID 10738005 2000 Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).

PMID 9700613 1998 A novel mutation in a Brazilian patient with 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 12373566 2002 Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

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

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

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

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 11058910 2000 A novel missense mutation (H119L) identified in a Taiwan Chinese family with glycogen storage disease Ia (Von Gierke disease).

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

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

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

PMID 25356975 2014 Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

PMID 10738005 2000 Identification of a novel missense mutation (T16A) in the glucose-6-phosphatase gene in a Taiwan Chinese patient with glycogen storage disease Ia (Von Gierke disease).