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

Papers overview

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2013
2013
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
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
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
BACKGROUND AND OBJECTIVES The two main complications of severe chronic neutropenia are fatal sepsis and myelodysplasia/acute… (More)
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2003
2003
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 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
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
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
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
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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