Glycogen Storage Disease Type VIII
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- Neuromuscular disorders : NMD
Muscle phosphorylase b kinase (PHK) deficiency (glycogenosis type VIII) is a rare disorder caused by mutations in the PHKA1 gene… (More)
- No shinkei geka. Neurological surgery
We report a rare case presenting with a C2 neurinoma, which extended beyond the foramen magnum, producing a huge mass at the… (More)
- Carbohydrate research
The high molecular weight glycogen associated with the lysosomal compartment in glycogen storage disease type VIII is more… (More)
- Journal of Inherited Metabolic Disease
Erythrocytes provide a useful sample in which to study phosphorylaseb kinase defects in families affected with GSD VIII.