Glycogen Storage Disease Type IV
"Glycogen Storage Disease Type IV" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive metabolic disorder due to a deficiency in expression of glycogen branching enzyme 1 (alpha-1,4-glucan-6-alpha-glucosyltransferase), resulting in an accumulation of abnormal GLYCOGEN with long outer branches. Clinical features are MUSCLE HYPOTONIA and CIRRHOSIS. Death from liver disease usually occurs before age 2.
| Descriptor ID |
D006011
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| MeSH Number(s) |
C16.320.565.202.449.540 C18.452.648.202.449.540
|
| Concept/Terms |
Glycogen Storage Disease Type IV- Glycogen Storage Disease Type IV
- Andersen Disease
- Disease, Andersen
- Andersen's Disease
- Andersens Disease
- Disease, Andersen's
- Brancher Deficiency
- Brancher Deficiencies
- Deficiencies, Brancher
- Deficiency, Brancher
- Glycogen Branching Enzyme Deficiency
- Glycogen Storage Disease Type 4
- Glycogenosis 4
- Glycogenosis 4s
- Glycogenosis IV
- Glycogenosis IVs
- Type IV Glycogenosis
- Glycogenoses, Type IV
- Glycogenosis, Type IV
- Type IV Glycogenoses
- Amylopectinosis
- Amylopectinoses
- Gbe1 Deficiency
- Deficiencies, Gbe1
- Deficiency, Gbe1
- Gbe1 Deficiencies
|
Below are MeSH descriptors whose meaning is more general than "Glycogen Storage Disease Type IV".
Below are MeSH descriptors whose meaning is more specific than "Glycogen Storage Disease Type IV".
This graph shows the total number of publications written about "Glycogen Storage Disease Type IV" by people in this website by year, and whether "Glycogen Storage Disease Type IV" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 1 | 0 | 1 |
| 1999 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
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Below are the most recent publications written about "Glycogen Storage Disease Type IV" by people in Profiles.
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Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model. JCI Insight. 2024 May 14; 9(12).
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Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Mol Genet Metab. 2023 03; 138(3):107525.
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A novel mouse model that recapitulates adult-onset glycogenosis type 4. Hum Mol Genet. 2015 Dec 01; 24(23):6801-10.
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Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review. Hum Pathol. 2012 Jun; 43(6):943-51.
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Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. Hum Mol Genet. 2011 Nov 15; 20(22):4430-9.
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Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis. Prenat Diagn. 1999 Sep; 19(9):837-9.
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Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease. J Inherit Metab Dis. 1996; 19(1):51-8.