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Glycogen Storage Disease Type VIII
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…
National Institutes of Health
Glycogen storage disease, type IX
Glycogen Storage Disease
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Muscle phosphorylase b kinase deficiency revisited
Corpus ID: 38683672
Muscle phosphorylase b kinase (PHK) deficiency (glycogenosis type VIII) is a rare disorder caused by mutations in the PHKA1 gene…
[C2 neurinoma with intracranial extension: a case report].
No shinkei geka. Neurological surgery
Corpus ID: 41752832
We report a rare case presenting with a C2 neurinoma, which extended beyond the foramen magnum, producing a huge mass at the…
Phosphorylaseb kinase deficiency in glycogenosis type VIII: Differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay
Journal of Inherited Metabolic Disease
Corpus ID: 32827324
Erythrocytes provide a useful sample in which to study phosphorylaseb kinase defects in families affected with GSD VIII.
Molecular and metabolic aspects of lysosomal glycogen.
J. A. Taylor
Corpus ID: 42331066
The high molecular weight glycogen associated with the lysosomal compartment in glycogen storage disease type VIII is more…
[A case of glycogen storage disease type VIII found at the age of 62].
Nihon Shokakibyo Gakkai zasshi = The Japanese…
Corpus ID: 39678633
Glycogenosis Type VIII
Journal of neuropathology and experimental…
Corpus ID: 24072918
Abstract Glycogenosis Type VIII, characterized ultrastructurally by an accumulation of rosettes (alpha-particles) of glycogen in…
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