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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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Broader (1)

Glycogen Storage Disease
Glycogen Storage Disease Type VIIIPHKA2 genecongenital deficiency

Papers overview

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1993
1993
Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.
OBJECTIVE To describe two patients with Fanconi's nephropathy secondary to glycogen storage disease and speculate on the possible… 
Highly Cited
1989
Highly Cited
1989
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.
Phosphorylase kinase (PHK), the enzyme that activates glycogen phosphorylases in muscle, liver, and other tissues, is composed of… 
1988
1988
Hepatic phosphorylase b kinase deficiency with normal enzyme activity in leukocytes.
1983
1983
Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation.
1983
1983
Glycogenolysis in liver of phosphorylase kinase-deficient rats during liver perfusion and ischaemia.
Liver glycogen degradation and phosphorylase activity were measured in normal and phosphorylase kinase-deficient (gsd/gsd) rats… 
Highly Cited
1982
Highly Cited
1982
Detection of glycogen in a glycogen storage disease by 13C nuclear magnetic resonance
Review
1982
Review
1982
Value of the glucagon test in screening for hepatic glycogen storage disease.
The fasting glucagon test of 40 patients with hepatic glycogen storage disease (type I, 13 patients; type Ib, 5 patients; type… 
1980
1980
Metabolic adaptation in phosphorylase kinase deficiency.
1974
1974
Characterization of the phosphorylase b to a converting activity in skeletal muscle extracts of mice with the phosphorylase b kinase deficiency mutation.
1973
1973
The phosphorylation of troponin B by phosphorylase b kinase in skeletal muscle of mice carrying the phosphorylase b kinase deficiency gene.
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