Glycogen Storage Disease Type VIII

Known as: Glycogen Storage Disease Type VIII [Disease/Finding], Glycogenosis 8, glycogenosis type VIII 
An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1987-2009
0119872009

Papers overview

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2010
2010
Muscle phosphorylase b kinase (PHK) deficiency (glycogenosis type VIII) is a rare disorder caused by mutations in the PHKA1 gene… (More)
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2009
2009
We report a rare case presenting with a C2 neurinoma, which extended beyond the foramen magnum, producing a huge mass at the… (More)
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1992
1992
The high molecular weight glycogen associated with the lysosomal compartment in glycogen storage disease type VIII is more… (More)
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Review
1988
Review
1988
 
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1987
1987
Erythrocytes provide a useful sample in which to study phosphorylaseb kinase defects in families affected with GSD VIII. 
  • table 1
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