Condition: Glucose-6-phosphate transport defect


rs1182102272 in SLC37A4 gene and Glucose-6-phosphate transport defect PMID 10923042 2000 Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

PMID 11071391 2000 Mutation analysis in glycogen storage disease type 1 non-a.

PMID 10482962 1999 The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

PMID 9758626 1998 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

PMID 10940311 2000 Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.

PMID 15757503 2005 Immunodetection of the expression of microsomal proteins encoded by the glucose 6-phosphate transporter gene.

PMID 9781688 1998 Structure and mutation analysis of the glycogen storage disease type 1b gene.

PMID 28224773 2017 Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.

PMID 10482875 1999 Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

PMID 21629566 2011 A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

PMID 18337460 2008 The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic.

PMID 10518030 1999 Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

PMID 9675154 1998 Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

PMID 27066451 2016 Esophageal Stricture Secondary to Candidiasis in a Child with Glycogen Storage Disease 1b.

PMID 15059622 2004 Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

PMID 12409273 2002 Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

PMID 19579760 2009 Glycogen storage disease type Ib: the first case in Taiwan.

PMID 15953877 2005 A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

PMID 10931421 2000 Glycogen storage disease type Ib without neutropenia.

PMID 25982172 2015 Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step.

PMID 9428641 1997 Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

PMID 15669677 2004 Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

PMID 12444104 2002 Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

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

PMID 9856496 1998 Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

PMID 18835800 2008 Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.

PMID 10874322 2000 A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

PMID 17307551 2007 Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.

PMID 10026167 1999 Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

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

PMID 19454374 2009 Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation.

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

PMID 15260472 2004 Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib.

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

PMID 20386986 2010 Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries.

PMID 18437526 2008 Myasthenia gravis in a patient affected by glycogen storage disease type Ib: a further manifestation of an increased risk for autoimmune disorders?

PMID 15906092 2005 Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

PMID 24745989 2014 The SLC37 family of sugar-phosphate/phosphate exchangers.

PMID 18996862 2008 Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib.

PMID 21575371 2011 [Mutation in the SLC37A4 gene of glycogen storage disease type Ib in 15 families of the mainland of China].

PMID 15059622 2004 Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

PMID 9675154 1998 We then studied four unrelated Japanese families with GSD-Ib, and found three novel mutations: a four-base deletion/two-base insertion, a point mutation within a consensus splicing donor site, and a missense mutation (W118R).

rs121908980 in SLC37A4;TRAPPC4 gene and Glucose-6-phosphate transport defect PMID 10874322 2000 A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

PMID 15669677 2004 Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

PMID 11071391 2000 Mutation analysis in glycogen storage disease type 1 non-a.

PMID 15059622 2004 Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

PMID 10518030 1999 Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

PMID 15953877 2005 A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

PMID 12409273 2002 Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

PMID 19579760 2009 Glycogen storage disease type Ib: the first case in Taiwan.

PMID 9675154 1998 Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

PMID 9856496 1998 Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

PMID 10931421 2000 Glycogen storage disease type Ib without neutropenia.

PMID 10923042 2000 Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

PMID 9758626 1998 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

PMID 10482875 1999 Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

PMID 10482962 1999 The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

PMID 10026167 1999 Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

PMID 9428641 1997 Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.

PMID 21629566 2011 A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

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

PMID 9781688 1998 Structure and mutation analysis of the glycogen storage disease type 1b gene.

PMID 10940311 2000 Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.

PMID 10323254 1999 Molecular diagnosis of type 1c glycogen storage disease.

PMID 28224773 2017 Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib.

PMID 24646511 2014 Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity.

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

PMID 26913919 2016 Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

rs80356490 in TRAPPC4;SLC37A4 gene and Glucose-6-phosphate transport defect PMID 11071391 2000 Mutation analysis in glycogen storage disease type 1 non-a.

PMID 15669677 2004 Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases.

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 10940311 2000 Structural requirements for the stability and microsomal transport activity of the human glucose 6-phosphate transporter.

PMID 9758626 1998 A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

PMID 15953877 2005 A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.

PMID 18835800 2008 Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.

PMID 12444104 2002 Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib.

PMID 9675154 1998 Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11.

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

PMID 12409273 2002 Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b.

PMID 10923042 2000 Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

PMID 19579760 2009 Glycogen storage disease type Ib: the first case in Taiwan.

PMID 10026167 1999 Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

PMID 10931421 2000 Glycogen storage disease type Ib without neutropenia.

PMID 10518030 1999 Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c.

PMID 15059622 2004 Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.

PMID 9856496 1998 Genomic structure of the human glucose 6-phosphate translocase gene and novel mutations in the gene of a Japanese patient with glycogen storage disease type Ib.

PMID 10874322 2000 A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

PMID 21629566 2011 A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia.

PMID 10482962 1999 The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

PMID 10482875 1999 Glycogen storage disease type Ib: structural and mutational analysis of the microsomal glucose-6-phosphate transporter gene.

PMID 9781688 1998 Structure and mutation analysis of the glycogen storage disease type 1b gene.

PMID 9428641 1997 Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib.