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.