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MeSH Review

Glycogen Storage Disease

 
 
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Disease relevance of Glycogen Storage Disease

 

Psychiatry related information on Glycogen Storage Disease

 

High impact information on Glycogen Storage Disease

 

Chemical compound and disease context of Glycogen Storage Disease

 

Biological context of Glycogen Storage Disease

 

Anatomical context of Glycogen Storage Disease

 

Gene context of Glycogen Storage Disease

 

Analytical, diagnostic and therapeutic context of Glycogen Storage Disease

References

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  27. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Burwinkel, B., Scott, J.W., Bührer, C., van Landeghem, F.K., Cox, G.F., Wilson, C.J., Grahame Hardie, D., Kilimann, M.W. Am. J. Hum. Genet. (2005) [Pubmed]
  28. Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. Burwinkel, B., Bakker, H.D., Herschkovitz, E., Moses, S.W., Shin, Y.S., Kilimann, M.W. Am. J. Hum. Genet. (1998) [Pubmed]
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  30. Muscle as a putative producer of acid alpha-glucosidase for glycogenosis type II gene therapy. Martin-Touaux, E., Puech, J.P., Château, D., Emiliani, C., Kremer, E.J., Raben, N., Tancini, B., Orlacchio, A., Kahn, A., Poenaru, L. Hum. Mol. Genet. (2002) [Pubmed]
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