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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

Papers overview

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2012
2012
Karaki C, Kasahara M, Sakamoto S, Shigeta T, Uchida H, Kanazawa H, Kakiuchi T, Fukuda A, Nakazawa A, Horikawa R, Suzuki Y… 
2006
2006
SummaryWe describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211–1212delCT mutation… 
Review
2005
Review
2005
Glycogen storage disease type Ib is a rare inherited metabolic disorder that is caused by a deficiency of glucose-6-phosphate… 
2004
2004
Persistent neutropenia and repeated respiratory infections were documented in a girl with glycogen storage disease type Ib. A… 
1999
1999
The current mainstay of treatment in glycogen storage disease type I (GSD I) is dietary management that includes providing a… 
1998
1998
Patients with type Ib glycogen storage disease (GSD Ib) are susceptible to hypoglycaemic episodes. To determine whether an… 
1991
1991
A young woman with glycogen storage disease, type Ib, and chronic neutropenia had severe recurrent infections. In a life… 
1990
1990
We observed the development of generalized amyloidosis in a girl with glycogen storage disease type Ib (GSD-Ib) who showed…