Glycogen Storage Disease Type VI

Known as: Hepatic phosphorylase deficiency, Glycogen Storage Disease Type VI [Disease/Finding], PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER 
An autosomal recessive sub-type of glycogen storage disease caused by mutation(s) in the PYGL gene, encoding glycogen phosphorylase, liver form. The… (More)
National Institutes of Health

Papers overview

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2017
2017
BACKGROUND Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without… (More)
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Review
2009
Review
2009
Inhibition of cellular replication is one characteristic of cancer cells that has been effectively exploited in the past for the… (More)
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2007
2007
Deficiency of liver glycogen phosphorylase in glycogen storage disease (GSD) type VI results in a reduced ability to mobilize… (More)
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Highly Cited
2007
Highly Cited
2007
This paper presents hardware implementation and pe rformance metrics for the candidate stream ciphers in the Phase II Hardware… (More)
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Review
2006
Review
2006
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and… (More)
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Highly Cited
2006
Highly Cited
2006
BACKGROUND There is no global qualitative grading system for assessing the disease load and global severity of disease in a… (More)
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Review
2006
Review
2006
OBJECTIVE Familial aggregation, a primary theme in genetic epidemiology, can be estimated from family studies based on an index… (More)
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Highly Cited
2005
Highly Cited
2005
Recent biological studies have classified breast carcinomas into HER2-overexpressing, estrogen receptor-positive/luminal, basal… (More)
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1998
1998
Glycogen storage disease type VI (GSD6) defines a group of disorders that cause hepatomegaly and hypoglycemia with reduced liver… (More)
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1968
1968
Classification of the glycogen storage diseases according to the underlying enzyme defect has added considerably to our… (More)
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