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Items: 1 to 20 of 35

1.
Variation among DNA banking consent forms: points for clinicians to bank on
Samuel J. Huang, Laura M. Amendola, Darci L. Sternen
J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3
PMCID:
PMC9314484
ArticlePDF–776K
2.
A retrospective in‐depth analysis of continuous glucose monitoring datasets for patients with hepatic glycogen storage disease: Recommended outcome parameters for glucose management
Fabian Peeks, Irene J. Hoogeveen, R. Lude Feldbrugge, Rob Burghard, Foekje de Boer, Marieke J. Fokkert‐Wilts, Melanie M. van der Klauw, Maaike H. Oosterveer, Terry G. J. Derks
J Inherit Metab Dis. 2021 Sep; 44(5): 1136–1150. Published online 2021 May 5. doi: 10.1002/jimd.12383
PMCID:
PMC8519135
ArticlePDF–2.6M
3.
Neurological Characteristics of Pediatric Glycogen Storage Disease
Julio Henrique Muzetti, Daniel Almeida do Valle, Mara L. S. Ferreira Santos, Bruno Augusto Telles, Mara L. Cordeiro
Front Endocrinol (Lausanne) 2021; 12: 685272. Published online 2021 May 21. doi: 10.3389/fendo.2021.685272
PMCID:
PMC8176209
ArticlePDF–3.2M
4.
Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration
Goo-Young Kim, Young Mok Lee, Joon Hyun Kwon, Hyun Sik Jun, Janice Chou
Biochem Biophys Res Commun. Author manuscript; available in PMC 2021 Feb 11.
Published in final edited form as: Biochem Biophys Res Commun. 2017 Jan 22; 482(4): 569–574. Published online 2016 Nov 15. doi: 10.1016/j.bbrc.2016.11.075
PMCID:
PMC7877446
ArticlePDF–1.2M
5.
A case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature
Jiaoyu Ai, Wenhua He, Xin Huang, Yao Wu, Yupeng Lei, Chen Yu, Kivanc Görgülü, Kalliope N. Diakopoulos, Nonghua Lu, Yin Zhu
Medicine (Baltimore) 2020 Oct 16; 99(42): e22644. Published online 2020 Oct 16. doi: 10.1097/MD.0000000000022644
PMCID:
PMC7571931
ArticlePDF–441K
6.
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
Saskia B. Wortmann, Johan L. K. Van Hove, Terry G. J. Derks, Nathalie Chevalier, Vijaya Knight, Andreas Koller, Esmee Oussoren, Johannes A. Mayr, Francjan J. van Spronsen, Florian B. Lagler, Sommer Gaughan, Emile Van Schaftingen, Maria Veiga-da-Cunha
Blood. 2020 Aug 27; 136(9): 1033–1043. Prepublished online 2020 Apr 15. doi: 10.1182/blood.2019004465
PMCID:
PMC7530374
Article
7.
Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients
Bilal Aoun, Sami Sanjad, Jad A. Degheili, Abir Barhoumi, Amina Bassyouni, Pascale E. Karam
Front Pediatr. 2020; 8: 591. Published online 2020 Sep 11. doi: 10.3389/fped.2020.00591
PMCID:
PMC7518374
ArticlePDF–182K
8.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
ArticlePDF–2.5M
9.
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib
Sarah C. Grünert, Roland Elling, Bärbel Maag, Saskia B. Wortmann, Terry G. J. Derks, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Ute Spiekerkoetter
Orphanet J Rare Dis. 2020; 15: 218. Published online 2020 Aug 24. doi: 10.1186/s13023-020-01503-8
PMCID:
PMC7446198
ArticlePDF–1009K
10.
Dietary Management of the Glycogen Storage Diseases: Evolution of Treatment and Ongoing Controversies
Katalin M Ross, Iris A Ferrecchia, Kathryn R Dahlberg, Monika Dambska, Patrick T Ryan, David A Weinstein
Adv Nutr. 2020 Mar; 11(2): 439–446. Published online 2019 Sep 5. doi: 10.1093/advances/nmz092
PMCID:
PMC7442342
ArticlePDF–207K
11.
Gene therapy using a novel G6PC-S298C variant enhances the long-term efficacy for treating glycogen storage disease type Ia
Lisa Zhang, Cheol Lee, Irina Arnaoutova, Javier Anduaga, Matthew F. Starost, Brian C. Mansfield, Janice Y. Chou
Biochem Biophys Res Commun. Author manuscript; available in PMC 2021 Jun 30.
Published in final edited form as: Biochem Biophys Res Commun. 2020 Jun 30; 527(3): 824–830. Published online 2020 May 16. doi: 10.1016/j.bbrc.2020.04.124
PMCID:
PMC7309276
ArticlePDF–1.4M
12.
Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort
Camille Wicker, Célina Roda, Ariane Perry, Jean Baptiste Arnoux, Anais Brassier, Martin Castelle, Aude Servais, Jean Donadieu, Juliette Bouchereau, Bénédicte Pigneur, Philippe Labrune, Frank M. Ruemmele, Pascale de Lonlay
Mol Genet Metab Rep. 2020 Jun; 23: 100581. Published online 2020 Apr 9. doi: 10.1016/j.ymgmr.2020.100581
PMCID:
PMC7152669
ArticlePDF–858K
13.
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
ArticlePDF–330K
14.
Activation of tumor-promoting pathways implicated in hepatocellular adenoma/carcinoma, a long-term complication of glycogen storage disease type Ia
Jun-Ho Cho, Young Mok Lee, Seong-Ho Bae, Janice Y. Chou
Biochem Biophys Res Commun. Author manuscript; available in PMC 2021 Jan 29.
Published in final edited form as: Biochem Biophys Res Commun. 2020 Jan 29; 522(1): 1–7. Published online 2019 Nov 15. doi: 10.1016/j.bbrc.2019.11.061
PMCID:
PMC6954303
ArticlePDF–1.7M
15.
Gene therapy prevents hepatic tumor initiation in murine glycogen storage disease type Ia at the tumor-developing stage
Jun-Ho Cho, Young Mok Lee, Matthew F. Starost, Brian C. Mansfield, Janice Y. Chou
J Inherit Metab Dis. Author manuscript; available in PMC 2020 May 1.
Published in final edited form as: J Inherit Metab Dis. 2019 May; 42(3): 459–469. Published online 2019 Mar 6. doi: 10.1002/jimd.12056
PMCID:
PMC6483852
ArticlePDF–2.9M
16.
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency
Maria Veiga-da-Cunha, Nathalie Chevalier, Xavier Stephenne, Jean-Philippe Defour, Nicole Paczia, Alina Ferster, Younes Achouri, Joseph P. Dewulf, Carole L. Linster, Guido T. Bommer, Emile Van Schaftingen
Proc Natl Acad Sci U S A. 2019 Jan 22; 116(4): 1241–1250. Published online 2019 Jan 9. doi: 10.1073/pnas.1816143116
PMCID:
PMC6347702
ArticlePDF–1.6M
17.
Acute Pancreatitis Secondary to Severe Hypertriglyceridaemia in a Patient with Type 1a Glycogen Storage Disease: Emergent Use of Plasmapheresis
E. Rivers, B. C. Reynolds, S. Bunn, N. J. Leech, J. Straker, H. J. Lambert
JIMD Rep. 2018; 42: 1–4. Published online 2017 Oct 14. doi: 10.1007/8904_2017_64
PMCID:
PMC6226393
ArticlePDF–216K
18.
Liver-directed gene therapy for murine glycogen storage disease type Ib
Joon Hyun Kwon, Young Mok Lee, Jun-Ho Cho, Goo-Young Kim, Javier Anduaga, Matthew F Starost, Brian C Mansfield, Janice Y Chou
Hum Mol Genet. 2017 Nov 15; 26(22): 4395–4405. Published online 2017 Aug 21. doi: 10.1093/hmg/ddx325
PMCID:
PMC5886224
ArticlePDF–934K
19.
Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function
Daniela Melis, Fortunata Carbone, Giorgia Minopoli, Claudia La Rocca, Francesco Perna, Veronica De Rosa, Mario Galgani, Generoso Andria, Giancarlo Parenti, Giuseppe Matarese
J Immunol. 2017 May 15; 198(10): 3803–3808. Published online 2017 Apr 7. doi: 10.4049/jimmunol.1601946
PMCID:
PMC5421305
ArticlePDF–946K
20.
Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review
Bingqing Zhang, Xuejun Zeng
Clin Rheumatol. 2016; 35(11): 2851–2856. Published online 2016 May 2. doi: 10.1007/s10067-016-3290-1
PMCID:
PMC5063890
ArticlePDF–386K

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