Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Patients with GSDIIIa show involvement of liver and cardiac/skeletal muscle, whereas GSDIIIb patients display only...

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發表在:J Inherit Metab Dis
Main Authors: Sentner, Christiaan P., Hoogeveen, Irene J., Weinstein, David A., Santer, René, Murphy, Elaine, McKiernan, Patrick J., Steuerwald, Ulrike, Beauchamp, Nicholas J., Taybert, Joanna, Laforêt, Pascal, Petit, François M., Hubert, Aurélie, Labrune, Philippe, Smit, G. Peter A., Derks, Terry G. J.
格式: Artigo
語言:Inglês
出版: Springer Netherlands 2016
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Original Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4987401/
https://ncbi.nlm.nih.gov/pubmed/27106217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9932-2
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