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Items: 1 to 20 of 118

1.
Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment
Eran Tallis, Cecile L. Karsenty, Amanda B. Grimes, Lina B. Karam, Sarah H. Elsea, Vernon Reed Sutton, Brandy L. Rawls‐Castillo, Ning Liu, Claudia Soler‐Alfonso
JIMD Rep. 2022 Jul; 63(4): 309–315. Published online 2022 May 22. doi: 10.1002/jmd2.12304
PMCID:
PMC9259396
AbstractArticlePDF–1.1M
2.
Neutropenia in Glycogen Storage Disease Ib (GSD Ib): Outcomes for Patients Treated with Granulocyte Colony-Stimulating Factor (G-CSF)
David C. Dale, Audrey Anna Bolyard, Tracy Marrero, Merideth L. Kelley, Vahagn Makaryan, Emily Tran, Jamie Leung, Laurence A. Boxer, Priya S. Kishnani, Stephanie Austin, Corbinian Wanner, Iris A. Ferrecchia, Dina Khalaf, Dawn Maze, Joanne Kurtzberg, Cornelia Zeidler, Karl Welte, David A. Weinstein
Curr Opin Hematol. Author manuscript; available in PMC 2020 Feb 4.
Published in final edited form as: Curr Opin Hematol. 2019 Jan; 26(1): 16–21. doi: 10.1097/MOH.0000000000000474
PMCID:
PMC7000169
AbstractArticlePDF–330K
3.
Glycogen Storage Disease Ib and Severe Periodontal Destruction: A Case Report
Rui Ma, Fardad Moein Vaziri, Gregory J. Sabino, Nima D. Sarmast, Steven M. Zove, Vincent J. Iacono, Julio A. Carrion
Dent J (Basel) 2018 Dec; 6(4): 53. Published online 2018 Oct 3. doi: 10.3390/dj6040053
PMCID:
PMC6313740
AbstractArticlePDF–1.9M
4.
A Third Case of Glycogen Storage Disease IB and Giant Cell Tumour of the Mandible: A Disease Association or Iatrogenic Complication of Therapy
Raajiv Prasad, Jane Estrella, John Christodoulou, Geoffrey McKellar, Michel C. Tchan
JIMD Rep. 2018; 42: 5–8. Published online 2017 Nov 9. doi: 10.1007/8904_2017_67
PMCID:
PMC6226394
AbstractArticlePDF–478K
5.
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Rihwa Choi, Hyung-Doo Park, Jung Min Ko, Jeongho Lee, Dong Hwan Lee, Suk Jin Hong, Chang-Seok Ki, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Yon Ho Choe
Ann Lab Med. 2017 May; 37(3): 261–266. Published online 2017 Feb 17. doi: 10.3343/alm.2017.37.3.261
PMCID:
PMC5339099
AbstractArticlePDF–238K
6.
Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib.
N Bashan, Y Hagai, R Potashnik, S W Moses
J Clin Invest. 1988 May; 81(5): 1317–1322. doi: 10.1172/JCI113457
PMCID:
PMC442558
SummaryPage BrowsePDF–1.0M
7.
Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin
Magdalena Kaczor, Stanislaw Malicki, Justyna Folkert, Ewelina Dobosz, Danuta Bryzek, Barbara Chruscicka-Smaga, Milena Greczan, Dorota Wesół- Kucharska, Barbara Piątosa, Emilia Samborowska, Joanna Madzio, Janusz Książyk, Ewa Ehmke vel Emczyńska, Małgorzata Hajdacka, Jan Potempa, Wojciech Młynarski, Dariusz Rokicki, Florian Veillard
Blood Adv. 2024 Jun 11; 8(11): 2790–2802. Published online 2024 Mar 28. doi: 10.1182/bloodadvances.2023012403
PMCID:
PMC11176967
AbstractArticlePDF–2.1M
8.
Molecular mechanisms of aberrant neutrophil differentiation in glycogen storage disease type Ib
Sang Wan Sim, Yuyeon Jang, Tae Sub Park, Byung-Chul Park, Young Mok Lee, Hyun Sik Jun
Cell Mol Life Sci. 2022 May; 79(5): 246. Published online 2022 Apr 18. doi: 10.1007/s00018-022-04267-5
PMCID:
PMC11071875
AbstractArticlePDF–7.5M
9.
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study
Yong-Xian Shao, Cui-Li Liang, Ya-Ying Su, Yun-Ting Lin, Zhi-Kun Lu, Rui-Zhu Lin, Zhi-Zi Zhou, Chun-Hua Zeng, Chun-Yan Tao, Zong-Cai Liu, Wen Zhang, Li Liu
Orphanet J Rare Dis. 2024; 19: 155. Published online 2024 Apr 11. doi: 10.1186/s13023-024-03137-6
PMCID:
PMC11010294
AbstractArticlePDF–1.3M
10.
Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review
Zhuolin Wang, Ruiqin Zhao, Xiaoyun Jia, Xiaolei Li, Li Ma, Haiyan Fu
J Int Med Res. 2023 Dec; 51(12): 03000605231216633. Published online 2023 Dec 12. doi: 10.1177/03000605231216633
PMCID:
PMC10718061
AbstractArticlePDF–613K
11.
Hepatic ChREBP orchestrates intrahepatic carbohydrate metabolism to limit hepatic glucose 6-phosphate and glycogen accumulation in a mouse model for acute Glycogen Storage Disease type Ib
K.A. Krishnamurthy, M.G.S. Rutten, J.A. Hoogerland, T.H. van Dijk, T. Bos, M. Koehorst, M.P. de Vries, N.J. Kloosterhuis, H. Havinga, B.V. Schomakers, M. van Weeghel, J.C. Wolters, B.M. Bakker, M.H. Oosterveer
Mol Metab. 2024 Jan; 79: 101838. Published online 2023 Nov 22. doi: 10.1016/j.molmet.2023.101838
PMCID:
PMC10716006
AbstractArticlePDF–929K
12.
Clinical Remission of Severe Crohn’s Disease with Empagliflozin Monotherapy in a Pediatric Patient with Glycogen Storage Disease Type 1b
Lauren V. Collen, Peter E. Newburger, Scott B. Snapper
JPGN Rep. 2023 Nov; 4(4): e356. Published online 2023 Aug 28. doi: 10.1097/PG9.0000000000000356
PMCID:
PMC10684244
AbstractArticlePDF–793K
13.
Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report
Margherita Calia, Andrea Mario Luciano Arosio, Viola Crescitelli, Anna Fornari, Roberta Pretese, Serena Gasperini, Giovanna Zuin
Therap Adv Gastroenterol. 2023; 16: 17562848231202138. Published online 2023 Sep 28. doi: 10.1177/17562848231202138
PMCID:
PMC10540602
AbstractArticlePDF–800K
14.
Elucidation of intermolecular interactions between chlorogenic acid and glucose-6-phosphate translocase: A step towards chemically induced glycogen storage disease type 1b model
Santosh B. Patil, Pramod C. Gadad
3 Biotech. 2023 Jul; 13(7): 250. Published online 2023 Jun 26. doi: 10.1007/s13205-023-03661-5
PMCID:
PMC10293498
AbstractArticlePDF–1.8M
15.
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors
Simona Murko, Manuela Peschka, Konstantinos Tsiakas, Sebastian Schulz-Jürgensen, Uta Herden, René Santer
Mol Genet Metab Rep. 2023 Jun; 35: 100977. Published online 2023 May 4. doi: 10.1016/j.ymgmr.2023.100977
PMCID:
PMC10233270
AbstractArticlePDF–761K
16.
Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors
Maria Veiga-da-Cunha, Saskia B. Wortmann, Sarah C. Grünert, Emile Van Schaftingen
Diagnostics (Basel) 2023 May; 13(10): 1803. Published online 2023 May 19. doi: 10.3390/diagnostics13101803
PMCID:
PMC10217388
AbstractArticlePDF–1.7M
17.
Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland
Magdalena Kaczor, Dorota Wesół-Kucharska, Milena Greczan, Karolina Kierus, Łukasz Kałużny, Monika Duś-Żuchowska, Ewa Ehmke vel Emczyńska-Seliga, Elżbieta Ciara, Janusz Książyk, Dariusz Rokicki
Pediatr Endocrinol Diabetes Metab. 2022 Sep; 28(3): 207–212. Published online 2022 May 12. doi: 10.5114/pedm.2022.116115
PMCID:
PMC10214975
AbstractArticlePDF–544K
18.
Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders
Arianna Maiorana, Francesco Tagliaferri, Carlo Dionisi-Vici
Front Endocrinol (Lausanne) 2023; 14: 1145111. Published online 2023 Apr 21. doi: 10.3389/fendo.2023.1145111
PMCID:
PMC10160627
AbstractArticlePDF–2.3M
19.
Patient‐reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study
Sarah C. Grünert, Annieke Venema, Jamas LaFreniere, Blair Schneider, Enrique Contreras, Saskia B. Wortmann, Terry G. J. Derks
JIMD Rep. 2023 May; 64(3): 252–258. Published online 2023 Apr 19. doi: 10.1002/jmd2.12364
PMCID:
PMC10159866
AbstractArticlePDF–999K
20.
Molecular mechanism underlying impaired hepatic autophagy in glycogen storage disease type Ib
Sudeep Gautam, Lisa Zhang, Cheol Lee, Irina Arnaoutova, Hung Dar Chen, Roberta Resaz, Alessandra Eva, Brian C Mansfield, Janice Y Chou
Hum Mol Genet. 2023 Jan 15; 32(2): 262–275. Published online 2022 Aug 12. doi: 10.1093/hmg/ddac197
PMCID:
PMC10148728
AbstractArticlePDF–2.8M

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