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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

Papers overview

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Review
2011
Review
2011
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
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 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
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
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 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
Background—In several diseases there is a relation between deficiency of neutrophil granulocytes and granulomatous lesions… Expand
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1998
1998
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
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
We have observed the development of chronic inflammatory bowel disease, indistinguishable from Crohn disease, in two boys with… Expand
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