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Select item 107867021.

A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III

Antoine Gardin, Jérémy Rouillon, Valle Montalvo-Romeral, Lucille Rossiaud, Patrice Vidal, Romain Launay, Mallaury Vie, Youssef Krimi Benchekroun, Jérémie Cosette, Bérangère Bertin, Tiziana La Bella, Guillaume Dubreuil, Justine Nozi, Louisa Jauze, Romain Fragnoud, Nathalie Daniele, Laetitia Van Wittenberghe, Jérémy Esque, Isabelle André, Xavier Nissan, Lucile Hoch, Giuseppe Ronzitti

J Clin Invest. 2024 Jan 16; 134(2): e172018. Published online 2024 Jan 16. doi: 10.1172/JCI172018

PMCID:: PMC10786702

Abstract Article PDF–2.9M

Select item 103643602.

French recommendations for the management of glycogen storage disease type III

Camille Wicker, Aline Cano, Valérie Decostre, Roseline Froissart, François Maillot, Ariane Perry, François Petit, Catherine Voillot, Karim Wahbi, Joëlle Wenz, Pascal Laforêt, Philippe Labrune

Eur J Med Res. 2023; 28: 253. Published online 2023 Jul 24. doi: 10.1186/s40001-023-01212-5

PMCID:: PMC10364360

Abstract Article PDF–1.3M

Select item 102439413.

Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III

Tingting Yu, Hao Fu, Aoyu Yang, Yan Liang

Int J Endocrinol. 2023; 2023: 6679871. Published online 2023 May 30. doi: 10.1155/2023/6679871

PMCID:: PMC10243941

Abstract Article PDF–3.4M

Select item 102138804.

Pathological modeling of glycogen storage disease type III with CRISPR/Cas9 edited human pluripotent stem cells

Lucille Rossiaud, Pascal Fragner, Elena Barbon, Antoine Gardin, Manon Benabides, Emilie Pellier, Jérémie Cosette, Lina El Kassar, Karine Giraud-Triboult, Xavier Nissan, Giuseppe Ronzitti, Lucile Hoch

Front Cell Dev Biol. 2023; 11: 1163427. Published online 2023 May 11. doi: 10.3389/fcell.2023.1163427

PMCID:: PMC10213880

Abstract Article PDF–2.4M

Select item 102137335.

Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature

Elena Massimino, Anna Paola Amoroso, Roberta Lupoli, Alessandro Rossi, Brunella Capaldo

Front Nutr. 2023; 10: 1178348. Published online 2023 May 11. doi: 10.3389/fnut.2023.1178348

PMCID:: PMC10213733

Abstract Article PDF–168K

Select item 91093686.

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

Abstract Article PDF–1.3M

Select item 86001517.

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 79328718.

Diurnal variability of glucose tetrasaccharide (Glc₄) excretion in patients with glycogen storage disease type III

Sarah P. Young, Aleena Khan, Ela Stefanescu, Andrea M. Seifts, Ghada Hijazi, Stephanie Austin, Priya S. Kishnani

JIMD Rep. 2021 Mar; 58(1): 37–43. Published online 2020 Nov 3. doi: 10.1002/jmd2.12181

PMCID:: PMC7932871

Abstract Article PDF–890K

Select item 73834799.

Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations

Alessandro Rossi, Irene J. Hoogeveen, Vanessa B. Bastek, Foekje de Boer, Chiara Montanari, Uta Meyer, Arianna Maiorana, Andrea Bordugo, Alice Dianin, Carmen Campana, Miriam Rigoldi, Priya S. Kishnani, Surekha Pendyal, Pietro Strisciuglio, Serena Gasperini, Giancarlo Parenti, Rossella Parini, Sabrina Paci, Daniela Melis, Terry G. J. Derks

J Inherit Metab Dis. 2020 Jul; 43(4): 770–777. Published online 2020 Feb 26. doi: 10.1002/jimd.12224

PMCID:: PMC7383479

Abstract Article PDF–1.1M

Select item 659840310.

Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III

FRANCESCO FRANCINI-PESENTI, SILVIA TRESSO, NICOLA VITTURI

Acta Myol. 2019 Mar; 38(1): 17–20. Published online 2019 Mar 1.

PMCID:: PMC6598403

Abstract Article PDF–82K

Select item 650302111.

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

Abstract Article PDF–657K

Select item 498740112.

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

Abstract Article PDF–1.3M

Select item 430257113.

Glycogen storage disease type III: modified Atkins diet improves myopathy

Sebene Mayorandan, Uta Meyer, Hans Hartmann, Anibh Martin Das

Orphanet J Rare Dis. 2014; 9: 196. Published online 2014 Nov 28. doi: 10.1186/s13023-014-0196-3

PMCID:: PMC4302571

Abstract Article PDF–529K

Select item 424119714.

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 383262715.

Hyperlipidemia in glycogen storage disease type III: Effect of age and metabolic control

A. V. Bernier, C. P. Sentner, C. E. Correia, D. W. Theriaque, J. J. Shuster, G. P. A. Smit, D. A. Weinstein

J Inherit Metab Dis. Author manuscript; available in PMC 2013 Nov 18.

Published in final edited form as: J Inherit Metab Dis. 2008 Dec; 31(6): 10.1007/s10545-008-0919-5. Published online 2008 Aug 19. doi: 10.1007/s10545-008-0919-5