Glycogen Storage Disease Type 1B

Common Name(s)

Glycogen Storage Disease Type 1B, Glucose-6-phosphate transport defect

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease Type 1B" for support, advocacy or research.

Association for Glycogen Storage Disease

The purpose of the Association for Glycogen Storage Disease shall be to protect and promote the best interests of all persons and families affected by Glycogen Storage Disease [GSD]; to promote the establishment, improvement, and management of facilities for the treatment, study, education, shelter, recreation, recuperation and other general benefit to GSD-affected persons; to act as a vehicle of communication on GSD-related matters to patients, families, professionals, and the public; and to act as a focus for scientific, educational, and charitable activities related to the disease.

http://www.agsdus.org

Last Updated: 17 Jan 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Glycogen Storage Disease Type 1B" for support, advocacy or research.

Association for Glycogen Storage Disease

The purpose of the Association for Glycogen Storage Disease shall be to protect and promote the best interests of all persons and families affected by Glycogen Storage Disease [GSD]; to promote the establishment, improvement, and management of facilities for the treatment, study, education, shelter, recreation, recuperation and other general benefit to GSD-affected persons; to act as a vehicle of communication on GSD-related matters to patients, families, professionals, and the public; and to act as a focus for scientific, educational, and charitable activities related to the disease.

http://www.agsdus.org

Last Updated: 17 Jan 2013

View Details

 

General Support Organizations

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General Resources

Updated 9 Oct 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Glycogen Storage Disease Type 1B" returned 10 free, full-text research articles on human participants. First 3 results:

Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count.
 

Author(s): Inci Nur Saltik-Temizel, Nurten Koçak, Hasan Ozen, Aysel Yüce, Figen Gürakan, Hülya Demir

Journal: Turk. J. Pediatr.. ;47(2):180-2.

 

Inflammatory bowel disease (IBD)-like colitis is a known entity in glycogen storage disease (GSD) type 1b patients. The mean age of the reported cases with IBD-like colitis was 12 +/- 5 years, and all had absolute neutrophil count (ANC) less than 1,000 cells/microl. We report a three-year-old ...

Last Updated: 1 Aug 2005

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A novel mutation (A148V) in the glucose 6-phosphate translocase (SLC37A4) gene in a Korean patient with glycogen storage disease type 1b.
 

Author(s): Sung-Hee Han, Chang-Seok Ki, Ji-Eun Lee, Young-Jin Hong, Byong-Kwan Son, Kyung-Hee Lee, Yon-Ho Choe, Soo-Youn Lee, Jong-Won Kim

Journal: J. Korean Med. Sci.. 2005 Jun;20(3):499-501.

 

We report a Korean patient with glycogen storage disease type 1b (GSD-1b) whose diagnosis was confirmed by liver biopsy and laboratory results. The patient presented with delay of puberty and short stature on admission and had typical clinical symptoms of GSD as well as chronic neutropenia ...

Last Updated: 14 Jun 2005

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Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).
 

Author(s): Taco W Kuijpers, Nikolai A Maianski, Anton T J Tool, G Peter A Smit, Jan Peter Rake, Dirk Roos, Gepke Visser

Journal: Blood. 2003 Jun;101(12):5021-4.

 

Glycogen storage disease type 1b (GSD1b) is a rare autosomal recessive disorder characterized by hypoglycemia, hepatomegaly, and growth retardation, and associated-for unknown reasons- with neutropenia and neutrophil dysfunction. In 5 GSD1b patients in whom nicotin-amide adenine dinucleotide ...

Last Updated: 5 Jun 2003

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Glycogen Storage Disease Type 1B" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.