Deficiency of phosphorylase kinase

Known as: phosphorylase kinase deficiency 
 

Topic mentions per year

Topic mentions per year

1969-2014
02419692014

Papers overview

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2005
2005
Fatal congenital nonlysosomal cardiac glycogenosis has been attributed to a subtype of phosphorylase kinase deficiency, but the… (More)
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2005
2005
Phosphorylase kinase (PhK) deficiency is the underlying cause of variable clinical symptoms depending on the tissues involved… (More)
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1998
1998
Mutations in three different genes of phosphorylase kinase (Phk) subunits, PHKA2, PHKB and PHKG2, can give rise to glycogen… (More)
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1998
1998
We analysed the gene of the human α-subunit of liver phosphorylase kinase (PHKA2) in four Japanese families with X-linked liver… (More)
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1997
1997
Glycogen storage disease due to phosphorylase kinase deficiency occurs in several variants that differ in mode of inheritance and… (More)
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1997
1997
The association of autosomal recessive phosphorylase kinase deficiency in liver of a 3 1/2-year-old female child with mutations… (More)
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1996
1996
In five cases of X-linked liver glycogenosis subtype 2 (XLG2), we have identified mutations in the gene encoding the liver… (More)
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1990
1990
We report a longitudinal study of 41 patients with liver glycogenosis due to phosphorylase kinase deficiency. In their youth… (More)
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1982
1982
A 19-month-old girl with moderate hypotonia was studied. Histochemical and electronmicroscopic findings revealed that many… (More)
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1975
1975
1. The properties of phosphorylase a, phosphorylase b, phosphorylase kinase and phosphorylase phosphatase present in a human… (More)
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