For: | Özen H. Glycogen storage diseases: New perspectives. World J Gastroenterol 2007; 13(18): 2541-2553 [PMID: 17552001 DOI: 10.3748/wjg.v13.i18.2541] |
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URL: | https://www.wjgnet.com/1007-9327/full/v13/i18/2541.htm |
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Yan Liang, Caiqi Du, Hong Wei, Cai Zhang, Min Zhang, Minghui Hu, Feng Fang, Xiaoping Luo. Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases. Molecular Genetics & Genomic Medicine 2020; 8(10) doi: 10.1002/mgg3.1444
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Tejashwini Vittal Kumar, Meenakshi Bhat, Sanjeeva Ghanti Narayanachar, Vinu Narayan, Ambika K. Srikanth, Swathi Anikar, Swathi Shetty, Elsayed Abdelkreem. Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders. PLOS ONE 2022; 17(7): e0270373 doi: 10.1371/journal.pone.0270373
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A. Skakic, M. Djordjevic, A. Sarajlija, K. Klaassen, N. Tosic, B. Kecman, M. Ugrin, V. Spasovski, S. Pavlovic, M. Stojiljkovic. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. Clinical Genetics 2018; 93(2): 350 doi: 10.1111/cge.13093
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Yui Sasaki, Éric Leclerc, Vahid Hamedpour, Riku Kubota, Shin-ya Takizawa, Yasuyuki Sakai, Tsuyoshi Minami. Simplest Chemosensor Array for Phosphorylated Saccharides. Analytical Chemistry 2019; 91(24): 15570 doi: 10.1021/acs.analchem.9b03578
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Loranne Agius. Role of glycogen phosphorylase in liver glycogen metabolism. Molecular Aspects of Medicine 2015; 46: 34 doi: 10.1016/j.mam.2015.09.002
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Victoria Cerrada, Inés García-Consuegra, Joaquín Arenas, M. Esther Gallardo. Creation of an iPSC-Based Skeletal Muscle Model of McArdle Disease Harbouring the Mutation c.2392T>C (p.Trp798Arg) in the PYGM Gene. Biomedicines 2023; 11(9): 2434 doi: 10.3390/biomedicines11092434
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Karol M. Córdoba, Daniel Jericó, Ana Sampedro, Lei Jiang, María J. Iraburu, Paolo G.V. Martini, Pedro Berraondo, Matías A. Avila, Antonio Fontanellas. mRNA-Based Therapeutics. International Review of Cell and Molecular Biology 2022; 372: 55 doi: 10.1016/bs.ircmb.2022.03.005
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Eike Floettmann, Laraine Gregory, Joanne Teague, John Myatt, Clare Hammond, Simon M. Poucher, Huw B. Jones. Prolonged Inhibition of Glycogen Phosphorylase in Livers of Zucker Diabetic Fatty Rats Models Human Glycogen Storage Diseases. Toxicologic Pathology 2010; 38(3): 393 doi: 10.1177/0192623310362707
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Elodie Mutel, Amandine Gautier-Stein, Aya Abdul-Wahed, Marta Amigó-Correig, Carine Zitoun, Anne Stefanutti, Isabelle Houberdon, Jean-André Tourette, Gilles Mithieux, Fabienne Rajas. Control of Blood Glucose in the Absence of Hepatic Glucose Production During Prolonged Fasting in Mice. Diabetes 2011; 60(12): 3121 doi: 10.2337/db11-0571
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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. Bedtime extended release cornstarch improves biochemical profile and sleep quality for patients with glycogen storage disease type Ia. Molecular Genetics & Genomic Medicine 2023; 11(10) doi: 10.1002/mgg3.2221
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Camilla Ceccarani, Giulia Bassanini, Chiara Montanari, Maria Cristina Casiraghi, Emerenziana Ottaviano, Giulia Morace, Giacomo Biasucci, Sabrina Paci, Elisa Borghi, Elvira Verduci. Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients. Metabolites 2020; 10(4): 133 doi: 10.3390/metabo10040133
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Yazeid Alhaidan, Martin J. Larsen, Anders Jørgen Schou, Maria H. Stenlid, Mohammed A. Al Balwi, Henrik Thybo Christesen, Klaus Brusgaard. Exome sequencing revealed DNA variants in NCOR1, IGF2BP1, SGLT2 and NEK11 as potential novel causes of ketotic hypoglycemia in children. Scientific Reports 2020; 10(1) doi: 10.1038/s41598-020-58845-3
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Taozi Du, Yu Xia, Chengkai Sun, Zhuwen Gong, Lili Liang, Zizhen Gong, Ruifang Wang, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, Yu Sun, Bing Xiao, Wenjuan Qiu. Clinical, genetic profile and therapy evaluation of 11 Chinese pediatric patients with Fanconi-Bickel syndrome. Orphanet Journal of Rare Diseases 2024; 19(1) doi: 10.1186/s13023-024-03070-8
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Dorit Koren, Andrew Palladino. Genetic Diagnosis of Endocrine Disorders. 2016; : 31 doi: 10.1016/B978-0-12-800892-8.00003-8
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Jose M. Irimia, Catalina M. Meyer, Caron L. Peper, Lanmin Zhai, Cheryl B. Bock, Stephen F. Previs, Owen P. McGuinness, Anna DePaoli-Roach, Peter J. Roach. Impaired Glucose Tolerance and Predisposition to the Fasted State in Liver Glycogen Synthase Knock-out Mice. Journal of Biological Chemistry 2010; 285(17): 12851 doi: 10.1074/jbc.M110.106534
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Walaa Abdelhamed, Mohamed El-Kassas. Rare liver diseases in Egypt: Clinical and epidemiological characterization. Arab Journal of Gastroenterology 2024; 25(2): 75 doi: 10.1016/j.ajg.2023.12.002
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Victoria Marco-Benedí, Estíbaliz Jarauta, Sofía Pérez-Calahorra, Ana M. Bea, Fernando Civeira. Tratamiento de un varón con enfermedad de McArdle y muy alto riesgo cardiovascular con inhibidores de PCSK9. Clínica e Investigación en Arteriosclerosis 2019; 31(2): 89 doi: 10.1016/j.arteri.2018.11.005
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Theresa B. Flanagan, Jill A. Sutton, Laurie M. Brown, David A. Weinstein, Lisa J. Merlo. JIMD Reports, Volume 19. JIMD Reports 2014; 19: 23 doi: 10.1007/8904_2014_359
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Shujie Chen, Puxuan Zhang, Huimin Duan, Jie Wang, Yuyueyang Qiu, Zongbin Cui, Yulong Yin, Dan Wan, Liwei Xie. Gut microbiota in muscular atrophy development, progression, and treatment: New therapeutic targets and opportunities. The Innovation 2023; 4(5): 100479 doi: 10.1016/j.xinn.2023.100479
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Jonathan Stone, John Mitrofanis, Daniel M. Johnstone, Stephen R. Robinson. Twelve protections evolved for the brain, and their roles in extending its functional life. Frontiers in Neuroanatomy 2023; 17 doi: 10.3389/fnana.2023.1280275
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Ayelet Erez, Oleg A. Shchelochkov, Sharon E. Plon, Fernando Scaglia, Brendan Lee. Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism. The American Journal of Human Genetics 2011; 88(4): 402 doi: 10.1016/j.ajhg.2011.03.005
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Yu Ju Jeong, Ben Kang, So Yoon Choi, Chang-Seok Ki, Soo-Youn Lee, Hyung-Doo Park, Yon Ho Choe. Does Type I Truly Dominate Hepatic Glycogen Storage Diseases in Korea?: A Single Center Study. Pediatric Gastroenterology, Hepatology & Nutrition 2014; 17(4): 239 doi: 10.5223/pghn.2014.17.4.239
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Tamayo Takahashi, Kana Oue, Eiji Imado, Mitsuru Doi, Yoshitaka Shimizu, Mitsuhiro Yoshida. Severe perioperative lactic acidosis in a pediatric patient with glycogen storage disease type Ia: a case report. JA Clinical Reports 2023; 9(1) doi: 10.1186/s40981-023-00683-z
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Reem Dababneh, Ayman Shawabkeh, Shatha Gharaibeh, Zaid Al Khouri, Wajdi Amayreh, Nabil F. Bissada. Periodontal Manifestation of Type Ib Glycogen Storage Disease: A Rare Case Report. Clinical Advances in Periodontics 2020; 10(3): 150 doi: 10.1002/cap.10112
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Alexander A. Baranov, Leyla S. Namazova-Baranova, Andrey N. Surkov, Olga S. Gundobina, Elena A. Vishneva, Tea V. Margieva, Nato D. Vashakmadze, Liliya R. Selimzyanova. Management of Children with Glycogen Storage Disease (Liver Involvement Forms). Best Practice Guidelines. Pediatric pharmacology 2020; 17(4): 303 doi: 10.15690/pf.v17i4.2159
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Richard M. Bracken, Benjamin J. Gray, Daniel Turner. Comparison of the metabolic responses to ingestion of hydrothermally processed high-amylopectin content maize, uncooked maize starch or dextrose in healthy individuals. British Journal of Nutrition 2014; 111(7): 1231 doi: 10.1017/S0007114513003619
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Takayuki Yamada, Okiko Habara, Yuka Yoshii, Ryota Matsushita, Hitomi Kubo, Yosui Nojima, Takashi Nishimura. Role of glycogen in development and adult fitness in Drosophila
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Paulo F.V. Bizerra, Eduardo H. Gilglioni, Hang Lam Li, Simei Go, Ronald P.J. Oude Elferink, Arthur J. Verhoeven, Jung-Chin Chang. Opposite regulation of glycogen metabolism by cAMP produced in the cytosol and at the plasma membrane. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 2024; 1871(1): 119585 doi: 10.1016/j.bbamcr.2023.119585
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M. Kathryn Brewer, Maria Machio-Castello, Rosa Viana, Jeremiah L. Wayne, Andrea Kuchtová, Zoe R. Simmons, Sarah Sternbach, Sheng Li, Maria Adelaida García-Gimeno, Jose M. Serratosa, Pascual Sanz, Craig W. Vander Kooi, Matthew S. Gentry. An empirical pipeline for personalized diagnosis of Lafora disease mutations. iScience 2021; 24(11): 103276 doi: 10.1016/j.isci.2021.103276
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Timothy F Lang. Update on investigating hypoglycaemia in childhood. Annals of Clinical Biochemistry: International Journal of Laboratory Medicine 2011; 48(3): 200 doi: 10.1258/acb.2011.011012
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Mélanie Mahé, Tiffany J. Rios-Fuller, Andrea Karolin, Robert J. Schneider. Genetics of enzymatic dysfunctions in metabolic disorders and cancer. Frontiers in Oncology 2023; 13 doi: 10.3389/fonc.2023.1230934
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L. G. Wei, J. Q. Gao, X. M. Liu, J. M. Huang, X. Z. Li. A study of glycogen storage disease with 99Tcm-MIBI gated myocardial perfusion imaging. Irish Journal of Medical Science 2013; 182(4): 615 doi: 10.1007/s11845-013-0939-5
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Fabienne Rajas, Amandine Gautier-Stein, Gilles Mithieux. Glucose-6 Phosphate, a Central Hub for Liver Carbohydrate Metabolism. Metabolites 2019; 9(12): 282 doi: 10.3390/metabo9120282
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L. Volpi, G. Ricci, D. Orsucci, R. Alessi, F. Bertolucci, S. Piazza, C. Simoncini, M. Mancuso, G. Siciliano. Metabolic myopathies: functional evaluation by different exercise testing approaches. MUSCULOSKELETAL SURGERY 2011; 95(2): 59 doi: 10.1007/s12306-011-0096-9
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Marina Andjelkovic, Anita Skakic, Milena Ugrin, Vesna Spasovski, Kristel Klaassen, Sonja Pavlovic, Maja Stojiljkovic. Crosstalk between Glycogen-Selective Autophagy, Autophagy and Apoptosis as a Road towards Modifier Gene Discovery and New Therapeutic Strategies for Glycogen Storage Diseases. Life 2022; 12(9): 1396 doi: 10.3390/life12091396
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Bratati Kahali, Yue Chen, Mary F Feitosa, Lawrence F Bielak, Jeffrey R O’Connell, Solomon K Musani, Yash Hegde, Yanhua Chen, L C Stetson, Xiuqing Guo, Yi-ping Fu, Albert Vernon Smith, Kathleen A Ryan, Gudny Eiriksdottir, Ariella T Cohain, Matthew Allison, Andrew Bakshi, Donald W Bowden, Matthew J Budoff, J Jeffrey Carr, Shannon Carskadon, Yii-Der I Chen, Adolfo Correa, Breland F Crudup, Xiaomeng Du, Tamara B Harris, Jian Yang, Sharon L R Kardia, Lenore J Launer, Jiankang Liu, Thomas H Mosley, Jill M Norris, James G Terry, Nallasivam Palanisamy, Eric E Schadt, Christopher J O’Donnell, Laura M Yerges-Armstrong, Jerome I Rotter, Lynne E Wagenknecht, Samuel K Handelman, Vilmundur Gudnason, Michael A Province, Patricia A Peyser, Brian Halligan, Nicholette D Palmer, Elizabeth K Speliotes. A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects Against Myocardial Infarction. The Journal of Clinical Endocrinology & Metabolism 2021; 106(2): 372 doi: 10.1210/clinem/dgaa855
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K. E. Rolph, S. M. Cavanaugh, H. E. Wilson. First report of suspected glycogen storage disease type 1a occurring in an adult dog. Journal of Small Animal Practice 2022; 63(9): 713 doi: 10.1111/jsap.13494
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Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugênia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz. Glycogen storage diseases: Twenty‐seven new variants in a cohort of 125 patients. Molecular Genetics & Genomic Medicine 2019; 7(11) doi: 10.1002/mgg3.877
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Jing Wang, Yuping Yu, Chunquan Cai, Xiufang Zhi, Ying Zhang, Yu Zhao, Jianbo Shu. The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III. BMC Pediatrics 2022; 22(1) doi: 10.1186/s12887-022-03252-y
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Deborah A. Schady, Milton J. Finegold. Contemporary Evaluation of the Pediatric Liver Biopsy. Gastroenterology Clinics of North America 2017; 46(2): 233 doi: 10.1016/j.gtc.2017.01.013
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Jaehee Seol, Seyong Jung, Hong Koh, Jowon Jung, Yunkoo Kang. Echocardiographic Assessment of Patients with Glycogen Storage Disease in a Single Center. International Journal of Environmental Research and Public Health 2023; 20(3): 2191 doi: 10.3390/ijerph20032191
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Andrey N. Surkov, L. S. Namazova-Baranova, O. V. Kustova, A. S. Potapov, A. V. Anikin, A. N. Getman, V. I. Barskiy, G. V. Volynets, I. E. Smirnov. Features of the visualization of the liver in children with glycogen storage disease according to data of computed tomography. Russian Pediatric Journal 2019; 19(5): 260 doi: 10.18821/1560-9561-2016-19-5-260-268
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Sophy Korula, Sumita Danda, Praveen G. Paul, Sarah Mathai, Anna Simon. Hepatic Glycogenoses Among Children—Clinical and Biochemical Characterization: Single-Center Study. Journal of Clinical and Experimental Hepatology 2020; 10(3): 222 doi: 10.1016/j.jceh.2019.07.007
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Yui Sasaki, Tsuyoshi Minami. Methodologies for Spontaneous Preparation of Chemosensors and Their Arrays Using Off‐the‐Shelf Reagents. ChemNanoMat 2024; 10(1) doi: 10.1002/cnma.202300335
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José Ángel Cuenca-Gómez, Carmen María Lara-Rojas, Antonio Bonilla-López. Cardiac manifestations in inherited metabolic diseases. Current Problems in Cardiology 2024; 49(7): 102587 doi: 10.1016/j.cpcardiol.2024.102587
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Marcello Ciaccio, Luisa Agnello. Clinical and Laboratory Medicine Textbook. 2023; : 447 doi: 10.1007/978-3-031-24958-7_32
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SHEKARI KHANIANI MAHMOUD, AZIZ KHORRAMI, MANDANA RAFEEY, ROBABEH GHERGHEREHCHI, MANSOORI DERAKHSHAN SIMA. Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation. Journal of Genetics 2017; 96(1): 19 doi: 10.1007/s12041-016-0734-y
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Dominik Witzigmann, Jayesh A. Kulkarni, Jerry Leung, Sam Chen, Pieter R. Cullis, Roy van der Meel. Lipid nanoparticle technology for therapeutic gene regulation in the liver. Advanced Drug Delivery Reviews 2020; 159: 344 doi: 10.1016/j.addr.2020.06.026
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Sukhes Mukherjee, Suman Kumar Ray. Inborn Errors of Metabolism Screening in Neonates: Current Perspective with Diagnosis and Therapy. Current Pediatric Reviews 2022; 18(4): 274 doi: 10.2174/1573396318666220404194452
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Farzaneh Motamed, Maryam Monajemzadeh, Soroush Seifirad, Mandana Ashrafi, Abbas Rasti, Fatemeh Mahjoub. Liver Storage Disease in Iran: A Ten Year Study of Liver Biopsies in Children Medical Center Hospital in Tehran-Iran. Hepatitis Monthly 2011; 11(8): 652 doi: 10.5812/kowsar.1735143X.587
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Marta Zerunian, Francesco Pucciarelli, Benedetta Masci, Francesco Siciliano, Michela Polici, Benedetta Bracci, Gisella Guido, Tiziano Polidori, Domenico De Santis, Andrea Laghi, Damiano Caruso, Marta Laranjo. Updates on Quantitative MRI of Diffuse Liver Disease: A Narrative Review. BioMed Research International 2022; 2022: 1 doi: 10.1155/2022/1147111
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Yi-Chi Wu, Xue-Lin Xiang, June-Kong Yong, Meng Li, Lin-Man Li, Zi-Cheng Lv, Yi Zhou, Xi-Cheng Sun, Zi-Jie Zhang, Huan Tong, Xiao-Ying He, Qiang Xia, Hao Feng. Immune remodulation in pediatric inherited metabolic liver diseases. World Journal of Hepatology 2024; 16(9): 1258-1268 doi: 10.4254/wjh.v16.i9.1258
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Xiaomei Luo, Ying Duan, Di Fang, Yu Sun, Bing Xiao, Huiwen Zhang, Lianshu Han, Lili Liang, Zhuwen Gong, Xuefan Gu, Yongguo Yu, Wenjuan Qiu. Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China. Human Mutation 2022; 43(5): 557 doi: 10.1002/humu.24345
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Chelsea Smith, Marie-Josée Dicaire, Bernard Brais, Roberta La Piana. Neurological Involvement in Glycogen Storage Disease Type IXa due to PHKA2 Mutation. Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2020; 47(3): 400 doi: 10.1017/cjn.2020.18
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T.M. Manzia, R. Angelico, L. Toti, A. Cillis, P. Ciano, G. Orlando, A. Anselmo, M. Angelico, G. Tisone. Glycogen Storage Disease Type Ia and VI Associated With Hepatocellular Carcinoma: Two Case Reports. Transplantation Proceedings 2011; 43(4): 1181 doi: 10.1016/j.transproceed.2011.01.129
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Ethan K. Overfelt, S. Bryan Jones, Scott D. Bieber, David C. Pfeiffer. Hypertriglyceridemia-Induced Acute Pancreatitis Secondary to Glycogen Storage Disease Type Ia: Successful Treatment With Plasmapheresis. Annals of Internal Medicine: Clinical Cases 2023; 2(7) doi: 10.7326/aimcc.2022.1283
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Fabrício Rezende do Amaral, Vinicius Magalhães Carvalho, Marina Guimarães Fraga, Tânia Mara Pimenta Amaral, Carolina Cavaliéri Gomes, Ricardo Santiago Gomez. Oral Giant Cell Granuloma in a Patient with Glycogen Storage Disease. The Open Dentistry Journal 2009; 3(1): 144 doi: 10.2174/1874210600903010144
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P. Vineeth Daniel, Prosenjit Mondal. Causative and Sanative dynamicity of ChREBP in Hepato-Metabolic disorders. European Journal of Cell Biology 2020; 99(8): 151128 doi: 10.1016/j.ejcb.2020.151128
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