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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… Expand
National Institutes of Health

Related topics

Related topics

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

Glycogen Storage DiseaseGlycogen Storage Disease Type I

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2011
Review
2011
Congenital neutropenia: diagnosis, molecular bases and patient management
The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe (<0.5 G/l… Expand
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2007
2007
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.
OBJECTIVE To investigate the hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type 1(GSD1). STUDY… Expand
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Highly Cited
2006
Highly Cited
2006
The Glycogen Storage Diseases and Related Disorders
The liver glycogen storage disorders (GSDs) comprise GSD I, the hepatic presentations of GSD III, GSD IV, GSD VI, the liver forms… Expand
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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… Expand
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Highly Cited
2003
Highly Cited
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… Expand
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Highly Cited
1999
Highly Cited
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… Expand
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1998
1998
Treatment of enteritis in chronic granulomatous disease with granulocyte colony stimulating factor
Background—In several diseases there is a relation between deficiency of neutrophil granulocytes and granulomatous lesions… Expand
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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… Expand
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Highly Cited
1991
Highly Cited
1991
Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib.
Two children with glycogen storage disease type Ib associated with numerous recurrent bacterial infections as a result of… Expand
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Highly Cited
1986
Highly Cited
1986
Inflammatory bowel disease in glycogen storage disease type Ib.
We have observed the development of chronic inflammatory bowel disease, indistinguishable from Crohn disease, in two boys with… Expand
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