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Select item 91093681.

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III

Jing Wang, Yuping Yu, Chunquan Cai, Xiufang Zhi, Ying Zhang, Yu Zhao, Jianbo Shu

BMC Pediatr. 2022; 22: 284. Published online 2022 May 16. doi: 10.1186/s12887-022-03252-y

PMCID:: PMC9109368

Article PDF–1.3M

Select item 85800832.

Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient

Hua Wang, Liang Huo, Yajian Wang, Weiwei Sun, Weiyue Gu

Mol Genet Genomic Med. 2021 Oct; 9(10): e1779. Published online 2021 Aug 18. doi: 10.1002/mgg3.1779

PMCID:: PMC8580083

Article PDF–911K

Select item 75570343.

Diagnosis of hepatic glycogen storage disease patients with overlapping clinical symptoms by massively parallel sequencing: a systematic review of literature

Zahra Beyzaei, Bita Geramizadeh, Sara Karimzadeh

Orphanet J Rare Dis. 2020; 15: 286. Published online 2020 Oct 14. doi: 10.1186/s13023-020-01573-8

PMCID:: PMC7557034

Article PDF–1.1M

Select item 67854554.

Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity

Bing Xiao, Lili Wang, Huili Liu, Yanjie Fan, Yan Xu, Yu Sun, Wenjuan Qiu

Mol Genet Genomic Med. 2019 Oct; 7(10): e00945. Published online 2019 Aug 27. doi: 10.1002/mgg3.945

PMCID:: PMC6785455

Article PDF–789K

Select item 65030215.

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

Emanuela Ponzi, Viola Alesi, Francesca R. Lepri, Silvia Genovese, Sara Loddo, Mafalda Mucciolo, Antonio Novelli, Carlo Dionisi‐Vici, Arianna Maiorana

Mol Genet Genomic Med. 2019 May; 7(5): e634. Published online 2019 Mar 27. doi: 10.1002/mgg3.634

PMCID:: PMC6503021

Article PDF–657K

Select item 60745556.

A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families

Sulman Basit, Omhani Malibari, Alia Mahmood Al Balwi, Firoz Abdusamad, Feras Abu Ismail

Ann Saudi Med. 2014 Sep-Oct; 34(5): 390–395. doi: 10.5144/0256-4947.2014.390

PMCID:: PMC6074555

Article PDF–2.1M

Select item 60357417.

Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases

Natalie Pursell, Jessica Gierut, Wei Zhou, Michael Dills, Rohan Diwanji, Monika Gjorgjieva, Utsav Saxena, Jr-Shiuan Yang, Anee Shah, Nandini Venkat, Rachel Storr, Boyoung Kim, Weimin Wang, Marc Abrams, Margaux Raffin, Gilles Mithieux, Fabienne Rajas, Henryk Dudek, Bob D. Brown, Chengjung Lai

Mol Ther. 2018 Jul 5; 26(7): 1771–1782. Published online 2018 Apr 27. doi: 10.1016/j.ymthe.2018.04.023

PMCID:: PMC6035741

Article PDF–6.2M

Select item 59106678.

Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE Expression

Patrice Vidal, Serena Pagliarani, Pasqualina Colella, Helena Costa Verdera, Louisa Jauze, Monika Gjorgjieva, Francesco Puzzo, Solenne Marmier, Fanny Collaud, Marcelo Simon Sola, Severine Charles, Sabrina Lucchiari, Laetitia van Wittenberghe, Alban Vignaud, Bernard Gjata, Isabelle Richard, Pascal Laforet, Edoardo Malfatti, Gilles Mithieux, Fabienne Rajas, Giacomo Pietro Comi, Giuseppe Ronzitti, Federico Mingozzi

Mol Ther. 2018 Mar 7; 26(3): 890–901. Published online 2017 Dec 28. doi: 10.1016/j.ymthe.2017.12.019

PMCID:: PMC5910667

Article PDF–2.2M

Select item 58835829.

Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China

Yu Zhang, Mingming Xu, Xiaoxia Chen, Aijuan Yan, Guoyong Zhang, Zhenguo Liu, Wenjuan Qiu

BMC Med Genet. 2018; 19: 54. Published online 2018 Apr 4. doi: 10.1186/s12881-018-0560-6

PMCID:: PMC5883582

Article PDF–1.7M

Select item 498740110.

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

Christiaan P. Sentner, Irene J. Hoogeveen, David A. Weinstein, René Santer, Elaine Murphy, Patrick J. McKiernan, Ulrike Steuerwald, Nicholas J. Beauchamp, Joanna Taybert, Pascal Laforêt, François M. Petit, Aurélie Hubert, Philippe Labrune, G. Peter A. Smit, Terry G. J. Derks

J Inherit Metab Dis. 2016; 39: 697–704. Published online 2016 Apr 22. doi: 10.1007/s10545-016-9932-2

PMCID:: PMC4987401

Article PDF–1.3M

Select item 483747711.

Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations

Liting Zhai, Lingling Feng, Lin Xia, Huiyong Yin, Song Xiang

Nat Commun. 2016; 7: 11229. Published online 2016 Apr 18. doi: 10.1038/ncomms11229

PMCID:: PMC4837477

Article PDF–2.6M

Select item 431216912.

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series

Isabelle Rousseau-Nepton, Minoru Okubo, Rosemarie Grabs, the FORGE Canada Consortium, John Mitchell, Constantin Polychronakos, Celia Rodd

CMAJ. 2015 Feb 3; 187(2): E68–E73. doi: 10.1503/cmaj.140840

PMCID:: PMC4312169

Article PDF–114K

Select item 376391813.

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

PMCID:: PMC3763918

Article PDF–1.0M

Select item 294931514.

Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency

S Lucchiari, D Santoro, S Pagliarani, GP Comi

Acta Myol. 2007 Jul; 26(1): 72–74.

PMCID:: PMC2949315

Article PDF–145K

Select item 275348315.

Fast-Twitch Sarcomeric and Glycolytic Enzyme Protein Loss in Inclusion Body Myositis

Kenneth C. Parker, Sek Won Kong, Ronan J Walsh, Mohammad Salajegheh, Behzad Moghadaszadeh, Anthony A Amato, Remedios Nazareno, Yin Yin Lin, Bryan Krastins, David A Sarracino, Alan H Beggs, Jack L Pinkus, Steven A Greenberg

Muscle Nerve. Author manuscript; available in PMC 2009 Sep 28.

Published in final edited form as: Muscle Nerve. 2009 Jun; 39(6): 739–753. doi: 10.1002/mus.21230