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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]
URL: https://www.wjgnet.com/1007-9327/full/v13/i18/2541.htm
Number Citing Articles
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A. Drouet, F. Zagnoli, T. Fassier, F. Rannou, F. Baverel, M. Piraud, M. Bahuau, F. Petit, N. Streichenberger, P. Marcorelles, D. Vital Durand. Intolérance musculaire à l’effort par déficit en phosphofructokinase : apport au diagnostic du bilan métabolique musculaire (tests d’effort, spectroscopie RMN du P31)Revue Neurologique 2013; 169(8-9): 613 doi: 10.1016/j.neurol.2013.02.006
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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 diseasesMolecular 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 disordersPLOS 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 variantsClinical 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 SaccharidesAnalytical Chemistry 2019; 91(24): 15570 doi: 10.1021/acs.analchem.9b03578
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Loranne Agius. Role of glycogen phosphorylase in liver glycogen metabolismMolecular 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 GeneBiomedicines 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 TherapeuticsInternational 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 DiseasesToxicologic Pathology 2010; 38(3): 393 doi: 10.1177/0192623310362707
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Susmita Kaushik, Ana Maria Cuervo. The Liver2009; : 173 doi: 10.1002/9780470747919.ch12
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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 MiceDiabetes 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 IaMolecular Genetics & Genomic Medicine 2023; 11(10) doi: 10.1002/mgg3.2221
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Susmita Kaushik, Ana Maria Cuervo. The Liver2020; : 122 doi: 10.1002/9781119436812.ch11
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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 PatientsMetabolites 2020; 10(4): 133 doi: 10.3390/metabo10040133
15
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 childrenScientific Reports 2020; 10(1) doi: 10.1038/s41598-020-58845-3
16
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 syndromeOrphanet 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 Disorders2016; : 31 doi: 10.1016/B978-0-12-800892-8.00003-8
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Lea Abou Haidar, Panayotis Pachnis, Garrett K. Gotway, Min Ni, Ralph J. DeBerardinis, Markey C. McNutt. Partial N‐acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy managementJIMD Reports 2023; 64(6): 403 doi: 10.1002/jmd2.12388
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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 MiceJournal 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 characterizationArab 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 PCSK9Clínica 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 19JIMD 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 opportunitiesThe Innovation 2023; 4(5): 100479 doi: 10.1016/j.xinn.2023.100479
24
Jonathan Stone, John Mitrofanis, Daniel M. Johnstone, Stephen R. Robinson. Twelve protections evolved for the brain, and their roles in extending its functional lifeFrontiers 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 MetabolismThe 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 StudyPediatric Gastroenterology, Hepatology & Nutrition 2014; 17(4): 239 doi: 10.5223/pghn.2014.17.4.239
27
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 reportJA Clinical Reports 2023; 9(1) doi: 10.1186/s40981-023-00683-z
28
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 ReportClinical Advances in Periodontics 2020; 10(3): 150 doi: 10.1002/cap.10112
29
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 GuidelinesPediatric 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 individualsBritish Journal of Nutrition 2014; 111(7): 1231 doi: 10.1017/S0007114513003619
31
Takayuki Yamada, Okiko Habara, Yuka Yoshii, Ryota Matsushita, Hitomi Kubo, Yosui Nojima, Takashi Nishimura. Role of glycogen in development and adult fitness in Drosophila Development 2019;  doi: 10.1242/dev.176149
32
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 membraneBiochimica 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 mutationsiScience 2021; 24(11): 103276 doi: 10.1016/j.isci.2021.103276
34
Timothy F Lang. Update on investigating hypoglycaemia in childhoodAnnals of Clinical Biochemistry: International Journal of Laboratory Medicine 2011; 48(3): 200 doi: 10.1258/acb.2011.011012
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Mauro DiNuzzo, Anne B. Walls, Gülin Öz, Elizabeth R. Seaquist, Helle S. Waagepetersen, Lasse K. Bak, Maiken Nedergaard, Arne Schousboe. Brain Glycogen MetabolismAdvances in Neurobiology 2019; 23: 269 doi: 10.1007/978-3-030-27480-1_9
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Mélanie Mahé, Tiffany J. Rios-Fuller, Andrea Karolin, Robert J. Schneider. Genetics of enzymatic dysfunctions in metabolic disorders and cancerFrontiers 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 imagingIrish 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 MetabolismMetabolites 2019; 9(12): 282 doi: 10.3390/metabo9120282
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Diagnostic Pathology: Hepatobiliary and Pancreas2017; : 4 doi: 10.1016/B978-0-323-44307-4.50008-7
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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 approachesMUSCULOSKELETAL SURGERY 2011; 95(2): 59 doi: 10.1007/s12306-011-0096-9
41
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 DiseasesLife 2022; 12(9): 1396 doi: 10.3390/life12091396
42
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 InfarctionThe 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 dogJournal 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 patientsMolecular 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 IIIBMC Pediatrics 2022; 22(1) doi: 10.1186/s12887-022-03252-y
46
Deborah A. Schady, Milton J. Finegold. Contemporary Evaluation of the Pediatric Liver BiopsyGastroenterology 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 CenterInternational 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 tomographyRussian 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 StudyJournal 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 ReagentsChemNanoMat 2024; 10(1) doi: 10.1002/cnma.202300335
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Raymond Quigley. Pediatric Nephrology2009; : 979 doi: 10.1007/978-3-540-76341-3_39
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José Ángel Cuenca-Gómez, Carmen María Lara-Rojas, Antonio Bonilla-López. Cardiac manifestations in inherited metabolic diseasesCurrent 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 Textbook2023; : 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 mutationJournal 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 liverAdvanced Drug Delivery Reviews 2020; 159: 344 doi: 10.1016/j.addr.2020.06.026
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MohammedM Abd El-Razzak, KhadigaM Ali, MohammadS Al-Haggar, MonaA.L Alsayed. A cross-sectional study of complications in children with glycogen storage disease: a single-center studyAlexandria Journal of Pediatrics 2019; 32(3): 136 doi: 10.4103/AJOP.AJOP_14_19
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Sukhes Mukherjee, Suman Kumar Ray. Inborn Errors of Metabolism Screening in Neonates: Current Perspective with Diagnosis and TherapyCurrent Pediatric Reviews 2022; 18(4): 274 doi: 10.2174/1573396318666220404194452
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Gary C. Kanel. Atlas of Liver Pathology2024; : 271 doi: 10.1016/B978-0-323-82533-7.00010-7
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Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici, Arianna Maiorana. Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XIOrphanet Journal of Rare Diseases 2022; 17(1) doi: 10.1186/s13023-022-02387-6
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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-IranHepatitis Monthly 2011; 11(8): 652 doi: 10.5812/kowsar.1735143X.587
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Andrey N. Surkov, A. A. Baranov, L. S. Namazova-Baranova, A. S. Karulina, A. S. Potapov, N. N. Semyonova, O. S. Gundobina, A. K. Gevorkyan, K. V. Savostyanov, A. A. Pushkov, N. V. Zhurkova, G. V. Volynets, M. M. Shilova. Dynamics of clinical and laboratory indices in children with glycogen storage disease type I on comprehensive therapyRussian Pediatric Journal 2019; 19(6): 324 doi: 10.18821/1560-9561-2016-19-6-324-331
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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 ReviewBioMed Research International 2022; 2022: 1 doi: 10.1155/2022/1147111
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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 ChinaHuman 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 MutationCanadian 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 ReportsTransplantation 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 PlasmapheresisAnnals 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 DiseaseThe Open Dentistry Journal 2009; 3(1): 144 doi: 10.2174/1874210600903010144
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M. Kathryn Brewer, Annette Uittenbogaard, Grant L. Austin, Dyann M. Segvich, Anna DePaoli-Roach, Peter J. Roach, John J. McCarthy, Zoe R. Simmons, Jason A. Brandon, Zhengqiu Zhou, Jill Zeller, Lyndsay E.A. Young, Ramon C. Sun, James R. Pauly, Nadine M. Aziz, Bradley L. Hodges, Tracy R. McKnight, Dustin D. Armstrong, Matthew S. Gentry. Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme FusionCell Metabolism 2019; 30(4): 689 doi: 10.1016/j.cmet.2019.07.002
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Jindan Yu, Xiuxin Ling, Lingli Chen, Youhong Fang, Haihua Lin, Jingan Lou, Yanqi Ren, Jie Chen. Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IXClinical Genetics 2024; 106(3): 267 doi: 10.1111/cge.14530
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Anna Köttgen, Cristian Pattaro, Carsten A Böger, Christian Fuchsberger, Matthias Olden, Nicole L Glazer, Afshin Parsa, Xiaoyi Gao, Qiong Yang, Albert V Smith, Jeffrey R O'Connell, Man Li, Helena Schmidt, Toshiko Tanaka, Aaron Isaacs, Shamika Ketkar, Shih-Jen Hwang, Andrew D Johnson, Abbas Dehghan, Alexander Teumer, Guillaume Paré, Elizabeth J Atkinson, Tanja Zeller, Kurt Lohman, Marilyn C Cornelis, Nicole M Probst-Hensch, Florian Kronenberg, Anke Tönjes, Caroline Hayward, Thor Aspelund, Gudny Eiriksdottir, Lenore J Launer, Tamara B Harris, Evadnie Rampersaud, Braxton D Mitchell, Dan E Arking, Eric Boerwinkle, Maksim Struchalin, Margherita Cavalieri, Andrew Singleton, Francesco Giallauria, Jeffrey Metter, Ian H de Boer, Talin Haritunians, Thomas Lumley, David Siscovick, Bruce M Psaty, M Carola Zillikens, Ben A Oostra, Mary Feitosa, Michael Province, Mariza de Andrade, Stephen T Turner, Arne Schillert, Andreas Ziegler, Philipp S Wild, Renate B Schnabel, Sandra Wilde, Thomas F Munzel, Tennille S Leak, Thomas Illig, Norman Klopp, Christa Meisinger, H-Erich Wichmann, Wolfgang Koenig, Lina Zgaga, Tatijana Zemunik, Ivana Kolcic, Cosetta Minelli, Frank B Hu, Åsa Johansson, Wilmar Igl, Ghazal Zaboli, Sarah H Wild, Alan F Wright, Harry Campbell, David Ellinghaus, Stefan Schreiber, Yurii S Aulchenko, Janine F Felix, Fernando Rivadeneira, Andre G Uitterlinden, Albert Hofman, Medea Imboden, Dorothea Nitsch, Anita Brandstätter, Barbara Kollerits, Lyudmyla Kedenko, Reedik Mägi, Michael Stumvoll, Peter Kovacs, Mladen Boban, Susan Campbell, Karlhans Endlich, Henry Völzke, Heyo K Kroemer, Matthias Nauck, Uwe Völker, Ozren Polasek, Veronique Vitart, Sunita Badola, Alexander N Parker, Paul M Ridker, Sharon L R Kardia, Stefan Blankenberg, Yongmei Liu, Gary C Curhan, Andre Franke, Thierry Rochat, Bernhard Paulweber, Inga Prokopenko, Wei Wang, Vilmundur Gudnason, Alan R Shuldiner, Josef Coresh, Reinhold Schmidt, Luigi Ferrucci, Michael G Shlipak, Cornelia M van Duijn, Ingrid Borecki, Bernhard K Krämer, Igor Rudan, Ulf Gyllensten, James F Wilson, Jacqueline C Witteman, Peter P Pramstaller, Rainer Rettig, Nick Hastie, Daniel I Chasman, W H Kao, Iris M Heid, Caroline S Fox. New loci associated with kidney function and chronic kidney diseaseNature Genetics 2010; 42(5): 376 doi: 10.1038/ng.568
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Xin-Hua Li, Qi-Ming Gong, Yun Ling, Chong Huang, De-Min Yu, Lei-Lei Gu, Xiang-Wei Liao, Dong-Hua Zhang, Xi-Qi Hu, Yue Han, Xiao-Fei Kong, Xin-Xin Zhang. Inherent lipid metabolic dysfunction in glycogen storage disease IIIaBiochemical and Biophysical Research Communications 2014; 455(1-2): 90 doi: 10.1016/j.bbrc.2014.10.096
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P. Vineeth Daniel, Prosenjit Mondal. Causative and Sanative dynamicity of ChREBP in Hepato-Metabolic disordersEuropean Journal of Cell Biology 2020; 99(8): 151128 doi: 10.1016/j.ejcb.2020.151128
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Tadayuki Iwase, Chiaki Okai, Yuko Kamata, Akiko Tajima, Yoshimitsu Mizunoe. A straightforward assay for measuring glycogen levels and RpoSJournal of Microbiological Methods 2018; 145: 93 doi: 10.1016/j.mimet.2017.12.008
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David A. Weinstein, Catherine E. Correia, Thomas Conlon, Andrew Specht, John Verstegen, Karine Onclin-Verstegen, Martha Campbell-Thompson, Gurmeet Dhaliwal, Layla Mirian, Holly Cossette, Darin J. Falk, Sean Germain, Nathalie Clement, Stacy Porvasnik, Laurie Fiske, Maggie Struck, Harvey E. Ramirez, Juan Jordan, Karl Andrutis, Janice Y. Chou, Barry J. Byrne, Cathryn S. Mah. Adeno-Associated Virus-Mediated Correction of a Canine Model of Glycogen Storage Disease Type IaHuman Gene Therapy 2010; 21(7): 903 doi: 10.1089/hum.2009.157
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Andrew Specht, Laurie Fiske, Kirsten Erger, Travis Cossette, John Verstegen, Martha Campbell-Thompson, Maggie B. Struck, Young Mok Lee, Janice Y. Chou, Barry J. Byrne, Catherine E. Correia, Cathryn S. Mah, David A. Weinstein, Thomas J. Conlon, Monica Fedele. Glycogen Storage Disease Type Ia in Canines: A Model for Human Metabolic and Genetic Liver DiseaseBioMed Research International 2011; 2011(1) doi: 10.1155/2011/646257
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