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Select item 107958911.

Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia Estimated by Oral D-[6,6-²H₂]-glucose

Alessandro Rossi, Maaike H Oosterveer, Theo H van Dijk, Aycha Bleeker, Martijn Koehorst, David A Weinstein, Barbara M Bakker, Terry G J Derks

J Clin Endocrinol Metab. 2024 Feb; 109(2): 389–401. Published online 2023 Sep 10. doi: 10.1210/clinem/dgad537

PMCID:: PMC10795891

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Select item 107307832.

Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report

Tamayo Takahashi, Kana Oue, Eiji Imado, Mitsuru Doi, Yoshitaka Shimizu, Mitsuhiro Yoshida

JA Clin Rep. 2023 Dec; 9: 91. Published online 2023 Dec 20. doi: 10.1186/s40981-023-00683-z

PMCID:: PMC10730783

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Select item 106889873.

A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T

Kentaro Ito, Go Tajima, Chikako Kamisato, Miyuki Tsumura, Mitsuhiro Iwamoto, Yukiko Sekiguchi, Yukinobu Numata, Kyoko Watanabe, Yoshiyuki Yabe, Satomi Kanki, Yusuke Fujieda, Koichi Goto, Yoshitaka Sogawa, Masataka Oitate, Hiroyuki Nagase, Shinnosuke Tsuji, Tomohiro Nishizawa, Masayo Kakuta, Takeshi Masuda, Yoshiyuki Onishi, Makoto Koizumi, Hidefumi Nakamura, Satoshi Okada, Masafumi Matsuo, Kiyosumi Takaishi

J Clin Invest. 2023 Dec 1; 133(23): e163464. Published online 2023 Dec 1. doi: 10.1172/JCI163464

PMCID:: PMC10688987

Article PDF–11M

Select item 105683834.

Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia

Rai‐Hseng Hsu, Hui‐An Chen, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Ju‐Li Lin, Hui‐Ling Weng, Yi‐Ting Lin, Yu‐Ching Lin, Ni‐Chung Lee

Mol Genet Genomic Med. 2023 Oct; 11(10): e2221. Published online 2023 Jun 5. doi: 10.1002/mgg3.2221

PMCID:: PMC10568383

Article PDF–761K

Select item 104945105.

Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy

David G. Jackson, Rebecca L. Koch, Surekha Pendyal, Robert Benjamin, Priya S. Kishnani

JIMD Rep. 2023 Sep; 64(5): 303–311. Published online 2023 Aug 18. doi: 10.1002/jmd2.12381

PMCID:: PMC10494510

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Select item 103331476.

Estimation of Health Utility Scores for Glycogen Storage Disease Type Ia

Eliza Kruger, Daniel Aggio, Hayley de Freitas, Andrew Lloyd

Pharmacoecon Open. 2023 Jul; 7(4): 627–638. Published online 2023 Apr 11. doi: 10.1007/s41669-023-00397-z

PMCID:: PMC10333147

Article PDF–678K

Select item 102778307.

Von Gierke Disease (Glycogen Storage Disease Type I) and Life-Threatening Abdominal Aortic Aneurysm: A Case Report of an Extremely Rare Condition

Apostolos G. Pitoulias, Nizar Abu Bakr, Majid Kazemtash, Firouza Dahi, Michael Schütz, Konstantinos P. Donas

Vasc Specialist Int. 2023; 39: 14. Published online 2023 Jun 19. doi: 10.5758/vsi.230017

PMCID:: PMC10277830

Article PDF–1.6M

Select item 102454328.

Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia

Alessandro Rossi, Antonia Assunto, Carmen Rosano, Sara Tucci, Margherita Ruoppolo, Marianna Caterino, Francesca Pirozzi, Pietro Strisciuglio, Giancarlo Parenti, Daniela Melis

Genes Nutr. 2023; 18: 10. Published online 2023 Jun 6. doi: 10.1186/s12263-023-00729-y

PMCID:: PMC10245432

Article PDF–1.3M

Select item 102263509.

Secondary diabetes as a rare complication of glycogen storage disease 1a: case report and review of literature

Anshita Aggarwal, Deepika Patel, Bindu Kulshreshtha

Pediatr Endocrinol Diabetes Metab. 2021 Dec; 27(4): 283–286. Published online 2021 Dec 30. doi: 10.5114/pedm.2021.109121

PMCID:: PMC10226350

Article PDF–475K

Select item 1012229710.

Normalization of hepatic ChREBP activity does not protect against liver disease progression in a mouse model for Glycogen Storage Disease type Ia

Martijn G. S. Rutten, Yu Lei, Joanne H. Hoogerland, Vincent W. Bloks, Hong Yang, Trijnie Bos, Kishore A. Krishnamurthy, Aycha Bleeker, Mirjam H. Koster, Rachel E. Thomas, Justina C. Wolters, Hilda van den Bos, Gilles Mithieux, Fabienne Rajas, Adil Mardinoglu, Diana C. J. Spierings, Alain de Bruin, Bart van de Sluis, Maaike H. Oosterveer

Cancer Metab. 2023; 11: 5. Published online 2023 Apr 21. doi: 10.1186/s40170-023-00305-3

PMCID:: PMC10122297

Article PDF–3.5M

Select item 1006801711.

Genome editing using Staphylococcus aureus Cas9 in a canine model of glycogen storage disease Ia

Benjamin Arnson, Hye Ri Kang, Elizabeth D. Brooks, Dorothy Gheorghiu, Ekaterina Ilich, David Courtney, Jeffrey I. Everitt, Bryan R. Cullen, Dwight D. Koeberl

Mol Ther Methods Clin Dev. 2023 Jun 8; 29: 108–119. Published online 2023 Mar 9. doi: 10.1016/j.omtm.2023.03.001

PMCID:: PMC10068017

Article PDF–3.2M

Select item 982056212.

Urine-Derived Epithelial Cells as a New Model to Study Renal Metabolic Phenotypes of Patients with Glycogen Storage Disease 1a

Livia Lenzini, Elisabetta Iori, Federico Scannapieco, Gianni Carraro, Angelo Avogaro, Nicola Vitturi

Int J Mol Sci. 2023 Jan; 24(1): 232. Published online 2022 Dec 23. doi: 10.3390/ijms24010232

PMCID:: PMC9820562

Article PDF–1.7M

Select item 980937613.

Yap signalling regulates ductular reactions in mice with CRISPR/Cas9-induced glycogen storage disease type Ia

Yixia Xie, Baowei Hu, Yue Gao, Yaxin Tang, Guohe Chen, Jiayuan Shen, Zhikai Jiang, He Jiang, Jiwei Han, Junyan Yan, Lifang Jin

Anim Cells Syst (Seoul) 2022; 26(6): 300–309. Published online 2022 Nov 7. doi: 10.1080/19768354.2022.2139755

PMCID:: PMC9809376

Article PDF–2.3M

Select item 980352514.

Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report

Qin Liu, Fang Yu, Huilin Lu, Jian Luo, Ting Sun, Lu Yu, Shenglian Gan

Medicine (Baltimore) 2022 Dec 30; 101(52): e32510. Published online 2022 Dec 30. doi: 10.1097/MD.0000000000032510

PMCID:: PMC9803525

Article PDF–496K

Select item 970253415.

Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry

Juan Du, Li-Min Dou, Yong-Hong Jin, Qing-Fen Wen, Ya-Fen Lin, Jian-She Wang

Front Pediatr. 2022; 10: 999596. Published online 2022 Nov 14. doi: 10.3389/fped.2022.999596

PMCID:: PMC9702534

Article PDF–585K

Select item 956155716.

Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report

Jie Wang, Yi Zhao, Pan Chang, Bin Liu, Rong Yao

World J Clin Cases. 2022 Oct 6; 10(28): 10273–10278. Published online 2022 Oct 6. doi: 10.12998/wjcc.v10.i28.10273

PMCID:: PMC9561557

Article PDF–1.1M

Select item 951678717.

A glycogen storage disease type 1a patient with type 2 diabetes

Yi Sun, Wenhui Qiang, Runze Wu, Tong Yin, Jie Yuan, Jin Yuan, Yunjuan Gu

BMC Med Genomics. 2022; 15: 205. Published online 2022 Sep 27. doi: 10.1186/s12920-022-01344-3

PMCID:: PMC9516787

Article PDF–1.5M

Select item 950479818.

Are the Bacteria and Their Metabolites Contributing for Gut Inflammation on GSD-Ia Patients?

Karina Colonetti, Evelise Leis de Carvalho, Darlene Lopes Rangel, Paulo Marcos Pinto, Luiz Fernando Wurdig Roesch, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz

Metabolites. 2022 Sep; 12(9): 873. Published online 2022 Sep 16. doi: 10.3390/metabo12090873

PMCID:: PMC9504798

Article PDF–1.3M

Select item 948940819.

Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia

Siti Aishah Abdul Wahab, Yusnita Yakob, Mohd Khairul Nizam Mohd Khalid, Noraishah Ali, Huey Yin Leong, Lock Hock Ngu

Genet Res (Camb) 2022; 2022: 5870092. Published online 2022 Sep 13. doi: 10.1155/2022/5870092

PMCID:: PMC9489408

Article PDF–855K

Select item 945860020.

Glycogen storage disease type 1a in the Ohio Amish

Ethan M. Scott, Olivia K. Wenger, Elizabeth Robinson, Kristina Colling, Miraides F. Brown, Jennifer Hershberger, Kadakkal Radhakrishnan

JIMD Rep. 2022 Sep; 63(5): 453–461. Published online 2022 Jun 21. doi: 10.1002/jmd2.12310

PMCID:: PMC9458600

Article PDF–1.0M

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