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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… 
National Institutes of Health

Related topics

Related topics

20 relations
Acidosis, LacticArthritis, GoutyAutosomal recessive inheritanceDelayed Puberty

Broader (2)

Glycogen Storage DiseaseGlycogen Storage Disease Type I

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor
Purpose of review Glycogen storage disease Ib (GSD Ib) is characterized by hepatomegaly, hypoglycemia, neutropenia, enterocolitis… 
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… 
2007
2007
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.
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… 
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… 
Review
2000
Review
2000
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart
Abstract We studied the glucose-6-phosphatase (G6Pase) gene of 30 unrelated glycogen storage disease type Ia (GSD Ia) patients… 
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… 
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… 
Highly Cited
1998
Highly Cited
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… 
Highly Cited
1991
Highly Cited
1991
Granulocyte and granulocyte-macrophage colony-stimulating factors for treatment of neutropenia in glycogen storage disease type Ib.
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