Glucose-6-phosphate transport defect

Known as: Glycogen Storage Disease Type I non-a, GSD1B, Glycogen Storage Disease IB 
Glycogen storage disease type I that is caused by mutations in the SLC37A4 gene. It is characterized by a deficiency of glucose-6-phosphate… (More)
National Institutes of Health

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19 relations
Acidosis, LacticArthritis, GoutyAutosomal recessive inheritanceDelayed Puberty
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Broader (2)

Glycogen Storage DiseaseGlycogen Storage Disease Type I

Papers overview

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2013
2013
Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes
Many reports have been published on the long-term outcome and treatment of hepatic glycogen storage diseases (GSDs) overseas… (More)
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2010
2010
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage…
OBJECTIVES To investigate the growth hormone (GH)-insulin-like growth factor (IGF) system in patients with glycogen storage… (More)
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2007
2007
Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice
Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT), an endoplasmic… (More)
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Highly Cited
2005
Highly Cited
2005
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group.
BACKGROUND AND OBJECTIVES The two main complications of severe chronic neutropenia are fatal sepsis and myelodysplasia/acute… (More)
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2003
2003
Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter.
Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT). In addition to… (More)
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1999
1999
The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
The purpose of this work was to test the hypothesis that mutations in the putative glucose 6-phosphate translocase gene would… (More)
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1998
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…
Glycogen storage disease type Ib (GSD-Ib) is an inborn error of metabolism with autosomal recessive inheritance, caused by… (More)
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1998
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
Glycogen storage disease (GSD) type Ib is an autosomal recessive disorder caused by a deficiency in microsomal glucose 6… (More)
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1993
1993
Improvement of neutropenia and neutrophil dysfunction by granulocyte colony-stimulating factor in a patient with glycogen storage disease type Ib
Patients with glycogen storage disease type Ib (GSD Ib) suffer from recurrent bacterial infections due to neutropenia and… (More)
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1981
1981
Glycogenosis type IB: possible membrane transport defect.
We have described a 20-month-old child with type IB glycogen storage disease, based on clinical and biochemical manifestations… (More)
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