Glycogen storage disease, type IX

Known as: hepatic phosphorylase kinase deficiency, Gsd Ix, Phosphorylase B Kinase Deficiency 
Glycogen storage disease usually inherited in an X-linked recessive pattern. It is characterized by a deficiency of hepatic phosphorylase kinase.
National Institutes of Health

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Glycogen Storage Disease
Glycogen Storage Disease Type VIIIPHKA2 genecongenital deficiency

Papers overview

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2015
2015
Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly
Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in… (More)
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2013
2013
Aggressive therapy improves cirrhosis in glycogen storage disease type IX.
Glycogen storage disease type IX (GSD IX) is described as a benign condition that often does not require treatment. Most patients… (More)
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2008
2008
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?
OBJECTIVE It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency is associated with exercise-related… (More)
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2007
2007
Glycogen storage disease type IX: High variability in clinical phenotype.
Glycogen storage disease type IX (GSD type IX) results from a deficiency of hepatic phosphorylase kinase activity. The… (More)
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Review
2006
Review
2006
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Glycogen storage diseases (GSDs) are characterized by abnormal inherited glycogen metabolism in the liver, muscle, and brain and… (More)
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2005
2005
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
Fatal congenital nonlysosomal cardiac glycogenosis has been attributed to a subtype of phosphorylase kinase deficiency, but the… (More)
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Highly Cited
1998
Highly Cited
1998
Unequal homologous recombination between LINE-1 elements as a mutational mechanism in human genetic disease.
Unequal homologous recombination between repetitive genetic elements is one mechanism that mediates genome instability. We have… (More)
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1988
1988
Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency.
 
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1987
1987
Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX
A variant form of phosphorylase kinase deficiency is described and studied using erythrocyte and leukocyte enzyme activities. 
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1982
1982
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.
A 19-month-old girl with moderate hypotonia was studied. Histochemical and electronmicroscopic findings revealed that many… (More)
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