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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.
2012
2012
Glycemic management in living donor liver transplantation for patients with glycogen storage disease type 1b
Karaki C, Kasahara M, Sakamoto S, Shigeta T, Uchida H, Kanazawa H, Kakiuchi T, Fukuda A, Nakazawa A, Horikawa R, Suzuki Y… 
2006
2006
A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction
SummaryWe describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211–1212delCT mutation… 
Review
2005
Review
2005
Unusual oral manifestations and evolution in glycogen storage disease type Ib.
Glycogen storage disease type Ib is a rare inherited metabolic disorder that is caused by a deficiency of glucose-6-phosphate… 
2004
2004
Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R.
2004
2004
Haematological findings in type Ib glycogen storage disease before and after portacaval shunt
Persistent neutropenia and repeated respiratory infections were documented in a girl with glycogen storage disease type Ib. A… 
1999
1999
Nutritional deficiencies in a patient with glycogen storage disease type Ib
The current mainstay of treatment in glycogen storage disease type I (GSD I) is dietary management that includes providing a… 
1998
1998
Prevention of hypoglycaemia in a patient with type Ib glycogen storage disease by an amylase (α‐glucosidase) inhibitor
Patients with type Ib glycogen storage disease (GSD Ib) are susceptible to hypoglycaemic episodes. To determine whether an… 
1991
1991
Granulocyte colony-stimulating factor corrects the neutropenia associated with glycogen storage disease type Ib.
A young woman with glycogen storage disease, type Ib, and chronic neutropenia had severe recurrent infections. In a life… 
1990
1990
Secondary amyloidosis in glycogen storage disease type Ib
We observed the development of generalized amyloidosis in a girl with glycogen storage disease type Ib (GSD-Ib) who showed… 
1986
1986
Lithium for treatment of neutropenia in glycogen storage disease type Ib.
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