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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…
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National Institutes of Health
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Related topics
Related topics
12 relations
Glycogen
Glycogen storage disease, type IX
In Blood
Microbiological
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Broader (2)
Glycogen Storage Disease
congenital deficiency
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
[C2 neurinoma with intracranial extension: a case report].
Shinya Sonobe
,
Kensuke Murakami
,
M. Kohama
,
Mika Watanabe
,
T. Kumabe
,
T. Tominaga
No shinkei geka. Neurological surgery
2009
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…
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Review
1988
Review
1988
[A case of glycogen storage disease type VIII found at the age of 62].
A. Tsukashima
,
H. Tsuji
,
+4 authors
M. Fujishima
Nihon Shokakibyo Gakkai zasshi = The Japanese…
1988
Corpus ID: 39678633
1987
1987
Phosphorylaseb kinase deficiency in glycogenosis type VIII: Differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay
G. T. Besley
Journal of Inherited Metabolic Disease
1987
Corpus ID: 32827324
Erythrocytes provide a useful sample in which to study phosphorylaseb kinase defects in families affected with GSD VIII.
1984
1984
Glycogenosis Type VIII
M. Kornfeld
,
Margaret LeBaron
Journal of Neuropathology and Experimental…
1984
Corpus ID: 24072918
Abstract Glycogenosis Type VIII, characterized ultrastructurally by an accumulation of rosettes (alpha-particles) of glycogen in…
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