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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2016
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Original Article
Acesso em linha: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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