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Items: 3

1.
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
Ghada Hijazi, Anna Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie L. Austin, Surekha Pendyal, Areeg El-Gharbawy, Kristen L. Deak, Andrew J. Muir, Priya S. Kishnani
Mol Genet Metab Rep. 2021 Dec; 29: 100821. Published online 2021 Nov 11. doi: 10.1016/j.ymgmr.2021.100821
PMCID:
PMC8600151
ArticlePDF–514K
2.
Improvement of Cardiomyopathy After High-Fat Diet in Two Siblings with Glycogen Storage Disease Type III
Alessandra Brambilla, Savina Mannarino, Roberta Pretese, Serena Gasperini, Cinzia Galimberti, Rossella Parini
JIMD Rep. 2014; 17: 91–95. Published online 2014 Oct 12. doi: 10.1007/8904_2014_343
PMCID:
PMC4241197
ArticlePDF–280K
3.
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
J Shen, Y Bao, H M Liu, P Lee, J V Leonard, Y T Chen
J Clin Invest. 1996 Jul 15; 98(2): 352–357. doi: 10.1172/JCI118799
PMCID:
PMC507437
SummaryPDF–195K

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