PMC Articles for MedGen (Select 369843) - PMC

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Items: 4

Select item 5074371.

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

Summary PDF–195K

Select item 86001512.

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

Abstract Article PDF–514K

Select item 42411973.

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

Abstract Article PDF–280K

Select item 37639184.

Echocardiographic Manifestations of Glycogen Storage Disease III: Increase in Wall Thickness and Left Ventricular Mass over Time

Shawyntee M. Vertilus, Stephanie L. Austin, Kimberly S. Foster, Keri E. Boyette, Deeksha Bali, Jennifer S. Li, Priya S. Kishnani, Stephanie Burns Wechsler

Genet Med. Author manuscript; available in PMC 2013 Sep 5.

Published in final edited form as: Genet Med. 2010 Jul; 12(7): 413–423. doi: 10.1097/GIM.0b013e3181e0e979