BPG is committed to discovery and dissemination of knowledge
Home / Archive / Volume 13, Issue 18
This Article
Citation of this article
Corresponding Author of This Article
Article-Type of This Article
Open-Access Policy of This Article
Times Cited Counts in Google of This Article
Number of Hits and Downloads for This Article
  • Total Article Views (13838)
All Articles published online
The chart showing PDF series, HTML series, Figures (1-3) series.
Item 
Count 
PDF1329
HTML12009
Figures (1-3)500
 Sum=13838
May 14, 2007 (publication date) through Apr 27, 2024
Times Cited of This Article
Journal Information of This Article
Publication Name
World Journal of Gastroenterology
ISSN
1007-9327
Publisher of This Article
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Cited by in CrossRef
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
1
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
2
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
3
D. Rothacker, A. Winterroth, M. Buller, M. Vogel, H. Zhou, G. Kistner, G. Gillessen-Kaesbach, J. Kohlhase. Glykogenose Typ IV (Andersen). Der Pathologe 2010; 31(4): 293 doi: 10.1007/s00292-010-1290-5
4
D. Robert Dufour. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. 2012; : 1637 doi: 10.1016/B978-1-4160-6164-9.00050-0
5
Raymond Quigley, Matthias T. F. Wolf. Pediatric Nephrology. 2016; : 1273 doi: 10.1007/978-3-662-43596-0_35
6
Gwyneth S. T. Soon, Michael Torbenson. The Liver and Glycogen: In Sickness and in Health. International Journal of Molecular Sciences 2023; 24(7): 6133 doi: 10.3390/ijms24076133
7
Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade. Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nature Genetics 2022; 54(8): 1214 doi: 10.1038/s41588-022-01120-0
8
Hanaa El-Karaksy, Ghada Anwar, Mona El-Raziky, Engy Mogahed, Ekram Fateen, Amr Gouda, Fatma El-Mougy, Ahmed El-Hennawy. Glycogen storage disease type III in Egyptian children: A single centre clinico-laboratory study. Arab Journal of Gastroenterology 2014; 15(2): 63 doi: 10.1016/j.ajg.2014.01.013
9
Patrick Koo, Jigme M. Sethi. Metabolic Myopathies and the Respiratory System. Clinics in Chest Medicine 2018; 39(2): 401 doi: 10.1016/j.ccm.2018.02.001
10
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
11
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
12
Handan Bezirganoglu, Kubra Adanur Saglam. An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV. Children 2023; 10(8): 1375 doi: 10.3390/children10081375
13
Nadia Ovchinsky, Roger K. Moreira, Jay H. Lefkowitch, Joel E. Lavine. Liver Biopsy in Modern Clinical Practice. Advances in Anatomic Pathology 2012; 19(4): 250 doi: 10.1097/PAP.0b013e31825c6a20
14
Christian J. Hendriksz, Paul Gissen. Glycogen storage disease. Paediatrics and Child Health 2015; 25(3): 139 doi: 10.1016/j.paed.2014.10.007
15
Jiaoyu Ai, Wenhua He, Xin Huang, Yao Wu, Yupeng Lei, Chen Yu, Kivanc Görgülü, Kalliope N. Diakopoulos, Nonghua Lu, Yin Zhu. A case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature. Medicine 2020; 99(42): e22644 doi: 10.1097/MD.0000000000022644
16
M. Kathryn Brewer, Maria Machio-Castello, Rosa Viana, Jeremiah L. Wayne, Andrea Kuchtová, Zoe R. Simmons, Sarah Sternbach, Sheng Li, Maria Adelaida Garcia-Gimeno, Jose M. Serratosa, Pascual Sanz, Craig W. Vander Kooi, Matthew S. Gentry. An Empirical Pipeline for Personalized Diagnosis of Lafora Disease Mutations. SSRN Electronic Journal 2021;  doi: 10.2139/ssrn.3904359
17
K. T. T. Corley. Metabolic disorders in foals. Equine Veterinary Education 2012; 24(8): 392 doi: 10.1111/j.2042-3292.2011.00376.x
18
Mohammad Nasser Kabbany, Praveen Kumar Conjeevaram Selvakumar, Xiaozhen Han, Xiaofeng Wang, David Grove, Adriano R. Tonelli, Raed A. Dweik, Laurie Minarich, Kadakkal Radhakrishnan, Naim Alkhouri. Breath Analysis in Children with Ketogenic Glycogen Storage Diseases. Livers 2022; 2(4): 336 doi: 10.3390/livers2040025
19
Richard Godfrey, Ros Quinlivan. Skeletal muscle disorders of glycogenolysis and glycolysis. Nature Reviews Neurology 2016; 12(7): 393 doi: 10.1038/nrneurol.2016.75
20
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
21
Raymond Quigley, Matthias T. F. Wolf. Pediatric Nephrology. 2014; : 1 doi: 10.1007/978-3-642-27843-3_35-1
22
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
23
Thomas Schroeder, Barbara Hildebrandt, Ertan Mayatepek, Ulrich Germing, Rainer Haas. A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report. Journal of Medical Case Reports 2008; 2(1) doi: 10.1186/1752-1947-2-319
24
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
25
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
26
Nathan M. Fastman, Yuxi Liu, Vyas Ramanan, Hanne Merritt, Eileen Ambing, Anna A. DePaoli-Roach, Peter J. Roach, Thomas D. Hurley, Kevin T. Mellem, Julie C. Ullman, Eric Green, David Morgans, Christos Tzitzilonis. The structural mechanism of human glycogen synthesis by the GYS1-GYG1 complex. Cell Reports 2022; 40(1): 111041 doi: 10.1016/j.celrep.2022.111041
27
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
28
Alberto Molares-Vila, Alberte Corbalán-Rivas, Miguel Carnero-Gregorio, José Luís González-Cespón, Carmen Rodríguez-Cerdeira. Biomarkers in Glycogen Storage Diseases: An Update. International Journal of Molecular Sciences 2021; 22(9): 4381 doi: 10.3390/ijms22094381
29
Susmita Kaushik, Ana Maria Cuervo. The Liver. 2009; : 173 doi: 10.1002/9780470747919.ch12
30
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
31
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
32
C. Domínguez-González, M.A. Martín-Casanueva. Miopatías metabólicas, mitocondriales y tóxicas. Medicine - Programa de Formación Médica Continuada Acreditado 2019; 12(76): 4497 doi: 10.1016/j.med.2019.04.004
33
Susmita Kaushik, Ana Maria Cuervo. The Liver. 2020; : 122 doi: 10.1002/9781119436812.ch11
34
Hayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, Burcu Berberoglu-Ates, Yusuf Aydemir, Erdal Sag, Serdar Ceylaner. JIMD Reports, Volume 17. JIMD Reports 2014; 17: 63 doi: 10.1007/8904_2014_335
35
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
36
Karina Colonetti, Filippo Pinto e Vairo, Marina Siebert, Tatiéle Nalin, Soraia Poloni, Luiz Fernando Wurdig Roesch, Carolina Fischinger Moura de Souza, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz. Cytokine profiling in patients with hepatic glycogen storage disease: Are there clues for unsolved aspects?. Cytokine 2023; 162: 156088 doi: 10.1016/j.cyto.2022.156088
37
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
38
Mi-Ryung Park, Jin Seop Ahn, Min Gook Lee, Bo Ram Lee, Sun A Ock, Sung June Byun, In-Sul Hwang. Characterization of Enlarged Tongues in Cloned Piglets. Current Issues in Molecular Biology 2023; 45(11): 9103 doi: 10.3390/cimb45110571
39
Vishrutha Poojari, Ira Shah, Naman S Shetty, Sonal Mirani, Drishti Tolani. Clinical profile and outcome of glycogen storage disease in Indian children. Tropical Doctor 2021; 51(2): 189 doi: 10.1177/0049475520961935
40
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
41
Nontobeko M. Gumede, Busisani W. Lembede, Pilani Nkomozepi, Richard L. Brooksbank, Kennedy H. Erlwanger, Eliton Chivandi. β-Sitosterol mitigates the development of high-fructose diet-induced nonalcoholic fatty liver disease in growing male Sprague–Dawley rats. Canadian Journal of Physiology and Pharmacology 2020; 98(1): 44 doi: 10.1139/cjpp-2019-0295
42
Qing Zeng, Michael Machado, Chongxue Bie, Peter C. M. van Zijl, Sofi Malvar, Yuguo Li, Valentina D'souza, Kirsten Achilles Poon, Andrew Grimm, Nirbhay N. Yadav. In vivo characterization of glycogen storage disease type III in a mouse model using glycoNOE MRI. Magnetic Resonance in Medicine 2024; 91(3): 1115 doi: 10.1002/mrm.29923
43
Dorit Koren, Andrew Palladino. Genetic Diagnosis of Endocrine Disorders. 2016; : 31 doi: 10.1016/B978-0-12-800892-8.00003-8
44
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 management. JIMD Reports 2023; 64(6): 403 doi: 10.1002/jmd2.12388
45
Solange Heller, Liliana Worona, Alejandra Consuelo. Nutritional Therapy for Glycogen Storage Diseases. Journal of Pediatric Gastroenterology and Nutrition 2008; 47(S1) doi: 10.1097/MPG.0b013e3181818ea5
46
IdowuO Senbanjo, MoriamO Lamina, Tolulope Kumolu-Johnson, Hala El-Said, MohamedAbdel Salam El-Guindi. First report of glycogen storage disease type 111a in a Nigerian child. Nigerian Postgraduate Medical Journal 2019; 26(2): 138 doi: 10.4103/npmj.npmj_17_19
47
Kavitha Mukund, Shankar Subramaniam. Skeletal muscle: A review of molecular structure and function, in health and disease. WIREs Systems Biology and Medicine 2020; 12(1) doi: 10.1002/wsbm.1462
48
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
49
Muscle Biopsy: A Practical Approach. 2013; : 423 doi: 10.1016/B978-0-7020-4340-6.00017-3
50
Walaa Abdelhamed, Mohamed El-Kassas. Rare liver diseases in Egypt: Clinical and epidemiological characterization. Arab Journal of Gastroenterology 2024;  doi: 10.1016/j.ajg.2023.12.002
51
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
52
Gary C. Kanel, Jacob Korula. Atlas of Liver Pathology. 2011; : 194 doi: 10.1016/B978-1-4377-0765-6.10008-4
53
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
54
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
55
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
56
Flavio Bonanini, Madhulika Singh, Hong Yang, Dorota Kurek, Amy C. Harms, Adil Mardinoglu, Thomas Hankemeier. A comparison between different human hepatocyte models reveals profound differences in net glucose production, lipid composition and metabolism in vitro. Experimental Cell Research 2024; 437(1): 114008 doi: 10.1016/j.yexcr.2024.114008
57
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
58
Idan Hekselman, Esti Yeger-Lotem. Mechanisms of tissue and cell-type specificity in heritable traits and diseases. Nature Reviews Genetics 2020; 21(3): 137 doi: 10.1038/s41576-019-0200-9
59
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
60
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
61
Terry G. J. Derks, David F. Rodriguez-Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba-Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos, John Mitchell. Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs. Nutrients 2021; 13(11): 3828 doi: 10.3390/nu13113828
62
Anne Davit-Spraul, Monique Piraud, Dries Dobbelaere, Vassili Valayannopoulos, Philippe Labrune, Dalila Habes, Olivier Bernard, Emmanuel Jacquemin, Christiane Baussan. Liver glycogen storage diseases due to phosphorylase system deficiencies: Diagnosis thanks to non invasive blood enzymatic and molecular studies. Molecular Genetics and Metabolism 2011; 104(1-2): 137 doi: 10.1016/j.ymgme.2011.05.010
63
Rebecca L. Koch, Claudia Soler-Alfonso, Bridget T. Kiely, Akihiro Asai, Ariana L. Smith, Deeksha S. Bali, Peter B. Kang, Andrew P. Landstrom, H. Orhan Akman, T. Andrew Burrow, Jennifer L. Orthmann-Murphy, Deberah S. Goldman, Surekha Pendyal, Areeg H. El-Gharbawy, Stephanie L. Austin, Laura E. Case, Raphael Schiffmann, Michio Hirano, Priya S. Kishnani. Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. Molecular Genetics and Metabolism 2023; 138(3): 107525 doi: 10.1016/j.ymgme.2023.107525
64
Xiaomei Luo, Jiacheng Hu, Xueren Gao, Yanjie Fan, Yu Sun, Xuefan Gu, Wenjuan Qiu. Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports. BMC Medical Genetics 2020; 21(1) doi: 10.1186/s12881-020-01010-4
65
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
66
Ilaria Granata, Mara Sangiovanni, Francesco Maiorano, Marco Miele, Mario Rosario Guarracino. Var2GO: a web-based tool for gene variants selection. BMC Bioinformatics 2016; 17(S12) doi: 10.1186/s12859-016-1197-0
67
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
68
Elodie Mutel, Aya Abdul-Wahed, Nirilanto Ramamonjisoa, Anne Stefanutti, Isabelle Houberdon, Sophie Cavassila, Frank Pilleul, Olivier Beuf, Amandine Gautier-Stein, Armelle Penhoat, Gilles Mithieux, Fabienne Rajas. Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas. Journal of Hepatology 2011; 54(3): 529 doi: 10.1016/j.jhep.2010.08.014
69
Hironori Nagasaka, Tohru Yorifuji, Robert H. J. Bandsma, Tomozumi Takatani, Hisaki Asano, Hiroshi Mochizuki, Mayuko Takuwa, Hirokazu Tsukahara, Ayano Inui, Tomoyuki Tsunoda, Haruki Komatsu, Eitaro Hiejima, Tomoo Fujisawa, Ken‐ichi Hirano, Takashi Miida, Akira Ohtake, Tadao Taguchi, Ichitomo Miwa. Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children. Journal of Inherited Metabolic Disease 2013; 36(1): 75 doi: 10.1007/s10545-012-9514-x
70
Suchitra K. Hourigan, Michael Torbenson, Eric Tibesar, Ann O. Scheimann. The Full Spectrum of Hepatic Steatosis in Children. Clinical Pediatrics 2015; 54(7): 635 doi: 10.1177/0009922814566927
71
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
72
Asburce Olgac, Aslı İnci, İlyas Okur, Gürsel Biberoğlu, Deniz Oğuz, Fatih Süheyl Ezgü, Çiğdem Seher Kasapkara, Emine Aktaş, Leyla Tümer. Beneficial Effects of Modified Atkins Diet in Glycogen Storage Disease Type IIIa. Annals of Nutrition and Metabolism 2020; 76(4): 233 doi: 10.1159/000509335
73
Manuela França, João Pinheiro Amorim. Imaging of the Liver and Intra-hepatic Biliary Tract. Medical Radiology 2021; : 267 doi: 10.1007/978-3-030-38983-3_14
74
Bo Liu, Bingbing Wu, Yi Lu, Ping Zhang, Feifan Xiao, Gang Li, Huijun Wang, Xinran Dong, Renchao Liu, Yuchuan Li, Xinbao Xie, Wenhao Zhou, Jianshe Wang, Yulan Lu. A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI. The Journal of Molecular Diagnostics 2020; 22(12): 1373 doi: 10.1016/j.jmoldx.2020.08.006
75
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
76
Peter Dornbos, Amanda Jurgelewicz, Kelly A. Fader, Kurt Williams, Timothy R. Zacharewski, John J. LaPres. Characterizing the Role of HMG-CoA Reductase in Aryl Hydrocarbon Receptor-Mediated Liver Injury in C57BL/6 Mice. Scientific Reports 2019; 9(1) doi: 10.1038/s41598-019-52001-2
77
Eliza Kruger, Daniel Aggio, Hayley de Freitas, Andrew Lloyd. Estimation of Health Utility Scores for Glycogen Storage Disease Type Ia. PharmacoEconomics - Open 2023; 7(4): 627 doi: 10.1007/s41669-023-00397-z
78
Michael C Giudici, Ferhaan Ahmad, Danniele G Holanda, Tor Biering-Sorensen, Rami Riziq Yousef Abumuaileq, Robert Schonbauer, Christian Fielder Camm, Peregrine Green. Patient with a PRKAG2 mutation who developed Immunoglobulin A nephropathy: a case report. European Heart Journal - Case Reports 2019; 3(2) doi: 10.1093/ehjcr/ytz038
79
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
80
M.-C. Vantyghem, C. Mention, D. Dobbelaere, C. Douillard. Hypoglycémies et manifestations endocriniennes des maladies héréditaires du métabolisme chez l’adulte. Annales d'Endocrinologie 2009; 70(1): 25 doi: 10.1016/j.ando.2008.12.007
81
Sameer M. Mazhar, Lance L. Stein, Silvana C. Faria, Michael R. Peterson, Claude B. Sirlin. Abdominal Imaging. 2011; : 630 doi: 10.1016/B978-1-4160-5449-8.00068-8
82
Humaira N. Adenwalla, Carolyn R. O'Connor. Catastrophic Axial Gout Causing Paraplegia in a Patient With Glycogen Storage Disease. JCR: Journal of Clinical Rheumatology 2011; 17(7): 387 doi: 10.1097/RHU.0b013e318236847d
83
Sibtain Ahmed, Fizza Akbar, Amyna Jaffar Ali, Bushra Afroze. Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan. Journal of Pediatric Endocrinology and Metabolism 2022; 0(0) doi: 10.1515/jpem-2021-0575
84
Fahmida Begum, Khan Lamia Nahid, Nadira Musabbir, Md. Wahiduzzaman Majumder, Md. Rukunuzzaman. Clinical and biochemical characteristics of glycogen storage disease in Bangladeshi children from a tertiary care center. Paediatric Nephrology Journal of Bangladesh 2023; 8(2): 61 doi: 10.4103/pnjb.pnjb_7_23
85
Karina Colonetti, Bruna Bento dos Santos, Tatiéle Nalin, Carolina Fischinger Moura de Souza, Eric W. Triplett, Priscila Thiago Dobbler, Ida Vanessa Doederlein Schwartz, Luiz Fernando Wurdig Roesch, Mathias Chamaillard. Hepatic glycogen storage diseases are associated to microbial dysbiosis. PLOS ONE 2019; 14(4): e0214582 doi: 10.1371/journal.pone.0214582
86
Natália Bauab Jorge, Adriana Maria Alves de Tommaso, Gabriel Hessel. ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I. Revista Paulista de Pediatria 2021; 39 doi: 10.1590/1984-0462/2021/39/2020046
87
Melike Ersoy, Bulent Uyanik, Asuman Gedikbasi. Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population. Genes 2021; 12(12): 1987 doi: 10.3390/genes12121987
88
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
89
Stavros Kounas, Perry M Elliott. Evidence‐Based Cardiology. 2009; : 808 doi: 10.1002/9781444309768.ch50
90
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
91
Mauro DiNuzzo, Anne B. Walls, Gülin Öz, Elizabeth R. Seaquist, Helle S. Waagepetersen, Lasse K. Bak, Maiken Nedergaard, Arne Schousboe. Brain Glycogen Metabolism. Advances in Neurobiology 2019; 23: 269 doi: 10.1007/978-3-030-27480-1_9
92
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
93
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
94
Jésica Tamara Jacoby, Bruna Bento dos Santos, Tatiele Nalin, Karina Colonetti, Lília Farret Refosco, Carolina F. M. de Souza, Poli Mara Spritzer, Soraia Poloni, Roberta Hack-Mendes, Ida Vanessa Doederlein Schwartz. Bone Mineral Density in Patients with Hepatic Glycogen Storage Diseases. Nutrients 2021; 13(9): 2987 doi: 10.3390/nu13092987
95
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott, Sami Al Kalbani, Khalid Al Thihli. Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib. Ophthalmic Genetics 2017; 38(6): 544 doi: 10.1080/13816810.2017.1323340
96
Leonidas G. Karagounis, John A. Hawley. Genetic and Molecular Aspects of Sport Performance. 2011; : 240 doi: 10.1002/9781444327335.ch21
97
Wei Zhu, Tian Zhao, Chunlin Zhao, Cheng Li, Feng Xie, Jiongyu Liu, Jianping Jiang. How will warming affect the growth and body size of the largest extant amphibian? More than the temperature–size rule. Science of The Total Environment 2023; 859: 160105 doi: 10.1016/j.scitotenv.2022.160105
98
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
99
Diagnostic Pathology: Hepatobiliary and Pancreas. 2017; : 4 doi: 10.1016/B978-0-323-44307-4.50008-7
100
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
101
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
102
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
103
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
104
Parinaz Moghimi, Farzad Hashemi-Gorji, Sanaz Jamshidi, Sahand Tehrani Fateh, Shadab Salehpour, Hossein Sadeghi, Fatemeh Norouzi Rostami, Reza Mirfakhraie, Mohammad Miryounesi, Mohammad-Reza Ghasemi. Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort. Biochemical Genetics 2024;  doi: 10.1007/s10528-024-10787-5
105
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
106
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
107
Kahealani Uehara, Won Dong Lee, Megan Stefkovich, Dipsikha Biswas, Dominic Santoleri, Anna Garcia Whitlock, William Quinn, Talia Coopersmith, Kate Townsend Creasy, Daniel J. Rader, Kei Sakamoto, Joshua D. Rabinowitz, Paul M. Titchenell. mTORC1 controls murine postprandial hepatic glycogen synthesis via Ppp1r3b. Journal of Clinical Investigation 2024; 134(7) doi: 10.1172/JCI173782
108
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
109
Tienian Zhu, Ruijing Zhao, Lizhong Zhang, Michel Bernier, Jiankun Liu. Pyrrolidine dithiocarbamate enhances hepatic glycogen synthesis and reduces FoxO1-mediated gene transcription in type 2 diabetic rats. American Journal of Physiology-Endocrinology and Metabolism 2012; 302(4): E409 doi: 10.1152/ajpendo.00453.2011
110
Bruna B. dos Santos, Tatiéle Nalin, Kamila C. Grokoski, Ingrid D. S. Perry, Lilia F. Refosco, Filippo P. Vairo, Carolina F. M. Souza, Ida V. D. Schwartz. Nutritional Status and Body Composition in Patients With Hepatic Glycogen Storage Diseases Treated With Uncooked Cornstarch—A Controlled Study. Journal of Inborn Errors of Metabolism and Screening 2017; 5: 232640981773301 doi: 10.1177/2326409817733014
111
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
112
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
113
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
114
Juliette Cooke, Maxime Delmas, Cecilia Wieder, Pablo Rodríguez Mier, Clément Frainay, Florence Vinson, Timothy Ebbels, Nathalie Poupin, Fabien Jourdan, Anders Wallqvist. Genome scale metabolic network modelling for metabolic profile predictions. PLOS Computational Biology 2024; 20(2): e1011381 doi: 10.1371/journal.pcbi.1011381
115
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
116
María Clemente, Miquel Gussinyer, José Antonio Arranz, Encarnació Riudor, Diego Yeste, Marian Albisu, Antonio Carrascosa. Glycogen Storage Disease Type III with Hypoketosis. Journal of Pediatric Endocrinology and Metabolism 2010; 23(8) doi: 10.1515/jpem.2010.134
117
Xiaoshu Cai, Georgi Z. Genchev, Ping He, Hui Lu, Guangjun Yu. Demographics, in-hospital analysis, and prevalence of 33 rare diseases with effective treatment in Shanghai. Orphanet Journal of Rare Diseases 2021; 16(1) doi: 10.1186/s13023-021-01830-4
118
Raymond Quigley. Pediatric Nephrology. 2009; : 979 doi: 10.1007/978-3-540-76341-3_39
119
Jose Ángel Cuenca-Gómez, Carmen María Lara-Rojas, Antonio Bonilla-López. Cardiac manifestations in inherited metabolic diseases. Current Problems in Cardiology 2024; : 102587 doi: 10.1016/j.cpcardiol.2024.102587
120
Amy E. Taylor. 50 Years Ago in The Journal of Pediatrics. The Journal of Pediatrics 2015; 167(5): 1041 doi: 10.1016/j.jpeds.2015.05.011
121
Marcello Ciaccio, Luisa Agnello. Clinical and Laboratory Medicine Textbook. 2023; : 447 doi: 10.1007/978-3-031-24958-7_32
122
Yui SASAKI, Tsuyoshi MINAMI. Preparation of Molecular Self-Assembled Chemosensors without Organic Synthesis and Their Arrays. BUNSEKI KAGAKU 2023; 72(12): 503 doi: 10.2116/bunsekikagaku.72.503
123
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
124
Trevor O. Kirby, Javier Ochoa-Reparaz, Jean-Baptiste Roullet, K. Michael Gibson. Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism. Molecular Genetics and Metabolism 2021; 132(1): 1 doi: 10.1016/j.ymgme.2020.12.289
125
Ali Saeed, Joanne A Hoogerland, Hanna Wessel, Janette Heegsma, Terry G J Derks, Eveline van der Veer, Gilles Mithieux, Fabienne Rajas, Maaike H Oosterveer, Klaas Nico Faber. Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels. Human Molecular Genetics 2020; 29(2): 264 doi: 10.1093/hmg/ddz283
126
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
127
Eric M Sieloff, Brian Rutledge, Cuyler Huffman, Duncan Vos, Thomas Melgar. National trends and outcomes of genetically inherited non-alcoholic chronic liver disease in the USA: estimates from the National Inpatient Sample (NIS) database. Gastroenterology Report 2021; 9(1): 38 doi: 10.1093/gastro/goaa091
128
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 study. Alexandria Journal of Pediatrics 2019; 32(3): 136 doi: 10.4103/AJOP.AJOP_14_19
129
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
130
Ioannis Gounaris, James D Brenton. Molecular pathogenesis of ovarian clear cell carcinoma. Future Oncology 2015; 11(9): 1389 doi: 10.2217/fon.15.45
131
Pascal Laforêt, Anders Oldfors, Edoardo Malfatti, John Vissing, Marie-Anne Colle, Jordi Duran, Matthew Gentry, Joan Guinovart, Thomas Hurley, Or Kakhlon, Thomas Krag, Hal Landy, Pascal Laforêt, Camilla B. Lilleør, Edoardo Malfatti, Berge Minassian, Federico Mingozzi, Elaine Murphy, Anders Oldfors, Richard Piercy, Monique Piraud, Vyas Ramanan, Mads Stemmerik, Christer Thomsen, John Vissing, Miguel Weil. 251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands. Neuromuscular Disorders 2021; 31(5): 466 doi: 10.1016/j.nmd.2021.01.010
132
Gary C. Kanel. Atlas of Liver Pathology. 2024; : 271 doi: 10.1016/B978-0-323-82533-7.00010-7
133
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 XI. Orphanet Journal of Rare Diseases 2022; 17(1) doi: 10.1186/s13023-022-02387-6
134
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
135
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 therapy. Russian Pediatric Journal 2019; 19(6): 324 doi: 10.18821/1560-9561-2016-19-6-324-331
136
Or Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D’Souza, Monzer Marisat, Uri Sprecher, Shane Wald‐Altman, Anna Dukhovny, Yuval Raviv, Benny Da’adoosh, Hamutal Engel, Sandrine Benhamron, Keren Nitzan, Sahar Sweetat, Anna Permyakova, Anat Mordechai, Hasan Orhan Akman, Hanna Rosenmann, Alexander Lossos, Joseph Tam, Berge A. Minassian, Miguel Weil. Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism. EMBO Molecular Medicine 2021; 13(10) doi: 10.15252/emmm.202114554
137
Francesco Tagliaferri, Miriam Massese, Luisa Russo, Anna Commone, Serena Gasperini, Roberta Pretese, Carlo Dionisi-Vici, Arianna Maiorana. Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort. Orphanet Journal of Rare Diseases 2022; 17(1) doi: 10.1186/s13023-022-02431-5
138
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
139
Shu‐Ching Mary Wang, George E.O. Muscat. Nuclear receptors and epigenetic signaling: Novel regulators of glycogen metabolism in skeletal muscle. IUBMB Life 2013; 65(8): 657 doi: 10.1002/iub.1181
140
Na Xu, Xinxin Han, Yun Zhang, Xiaoming Huang, Weiguo Zhu, Min Shen, Wen Zhang, Chen Jialin, Min Wei, Zhengqing Qiu, Xuejun Zeng. Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature. Arthritis Research & Therapy 2022; 24(1) doi: 10.1186/s13075-021-02706-5
141
Saranya Chidambaranathan-Reghupaty, Paul B. Fisher, Devanand Sarkar. Mechanisms and Therapy of Liver Cancer. Advances in Cancer Research 2021; 149: 1 doi: 10.1016/bs.acr.2020.10.001
142
Eun Jung Lee, Ha Eun Chang, Sung Hwa Kim, Yong Whi Jeong, Hong Koh, Yunkoo Kang, Slim Smaoui. Prevalence and Complications of Glycogen Storage Disease in South Korea: A Nationwide Population-Based Study, 2007-2018. BioMed Research International 2022; 2022: 1 doi: 10.1155/2022/2304494
143
J. Andres Morales, Christina G. Tise, Amrita Narang, Paul C. Grimm, Gregory M. Enns, Chung U. Lee. Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2. Molecular Genetics and Metabolism Reports 2021; 27: 100765 doi: 10.1016/j.ymgmr.2021.100765
144
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
145
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
146
Christian J. Hendriksz, Paul Gissen. Glycogen storage disease. Paediatrics and Child Health 2011; 21(2): 84 doi: 10.1016/j.paed.2010.09.013
147
J W Baynes. Medical Biochemistry. 2009; : 155 doi: 10.1016/B978-0-323-05371-6.00013-9
148
William E. Winter, J. Peter R. Pelletier, Neil S. Harris. Contemporary Practice in Clinical Chemistry. 2020; : 587 doi: 10.1016/B978-0-12-815499-1.00034-X
149
Shivaprakash Sosale C, Nagaraj M V, Sujatha R. UNUSUAL EUGLYCEMIC PRESENTATION OF GLYCOGEN STORAGE DISEASE TYPE 1B. Journal of Evidence Based Medicine and Healthcare 2015; 2(23): 3485 doi: 10.18410/jebmh/2015/503
150
Carolina Mantilla, Mónica Toro, María Elsy Sepúlveda, Margarita Insuasty, Diana Di Filippo, Juan Álvaro López, Carolina Baquero, María Cristina Navas, Andrés Augusto Arias. Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease. Biomédica 2017; 38: 30 doi: 10.7705/biomedica.v38i0.3454
151
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
152
Pathology of Liver Diseases. 2017; : 162 doi: 10.1002/9781118894903.ch9
153
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
154
Diya Bhalla, Susha Dinesh, Sameer Sharma, Gonchigar Jayanna Sathisha. Gut-Brain Axis Modulation of Metabolic Disorders: Exploring the Intertwined Neurohumoral Pathways and Therapeutic Prospects. Neurochemical Research 2024; 49(4): 847 doi: 10.1007/s11064-023-04084-7
155
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
156
Yiyang Li, Chuan Tian, Si Huang, Weijie Zhang, Qiuyu Liutang, Yajun Wang, Guoda Ma, Riling Chen. Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene. Frontiers in Genetics 2022; 13 doi: 10.3389/fgene.2022.1033944
157
Robbins and Cotran Pathologic Basis of Disease. 2010; : 135 doi: 10.1016/B978-1-4377-0792-2.50010-9
158
Shawn Lyo, Jeremy Miles, Jay Meisner, Mark Guelfguat, Domenico D'Amario, Alberto Aimo, Francesca Musella, Subhi Akleh, Rahul Mukherjee, Vassilios Parisis Memtsas. Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging. European Heart Journal - Case Reports 2020; 4(3): 1 doi: 10.1093/ehjcr/ytaa078
159
Pavel Strnad, Renwar Nuraldeen, Nurdan Guldiken, Daniel Hartmann, Vineet Mahajan, Helmut Denk, Johannes Haybaeck. Comprehensive Physiology. 2013; : 1393 doi: 10.1002/cphy.c120032
160
N V Polenova, T V Strokova, A V Starodubova. Characteristics of lipid metabolism and the cardiovascular system in glycogenosis types I and III. Terapevticheskii arkhiv 2017; 89(8): 88 doi: 10.17116/terarkh201789888-94
161
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 Fusion. Cell Metabolism 2019; 30(4): 689 doi: 10.1016/j.cmet.2019.07.002
162
Muscle Biopsy. 2020; : 389 doi: 10.1016/B978-0-7020-7471-4.00017-3
163
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 IX. Clinical Genetics 2024;  doi: 10.1111/cge.14530
164
Hiroshi Okuda, Koji Okamoto, Michiaki Abe, Kota Ishizawa, Satoshi Makino, Osamu Tanabe, Junichi Sugawara, Atsushi Hozawa, Kozo Tanno, Makoto Sasaki, Gen Tamiya, Masayuki Yamamoto, Sadayoshi Ito, Tadashi Ishii. Genome-wide association study identifies new loci for albuminuria in the Japanese population. Clinical and Experimental Nephrology 2020; 24(8): 1 doi: 10.1007/s10157-020-01884-x
165
Hilton Leao Filho, Camila Vilela de Oliveira, Natally Horvat. Other types of diffuse liver disease: is there a way to do it?. Abdominal Radiology 2020; 45(11): 3425 doi: 10.1007/s00261-020-02530-6
166
Merve Emecen Şanlı, Emine Aktaş, Aslı İnci, İlyas Okur, Fatih Ezgü, Leyla Tümer. Dietary Fiber Supplementation in Type I Glycogen Storage Disease; Could it Contribute to a Better Metabolic Control?. Güncel Pediatri 2023; 21(3): 228 doi: 10.4274/jcp.2023.56255
167
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 disease. Nature Genetics 2010; 42(5): 376 doi: 10.1038/ng.568
168
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 IIIa. Biochemical and Biophysical Research Communications 2014; 455(1-2): 90 doi: 10.1016/j.bbrc.2014.10.096
169
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
170
Kumi Ozaki, Kazuto Kozaka, Yasuo Kosaka, Hirohiko Kimura, Toshifumi Gabata. Morphometric changes and imaging findings of diffuse liver disease in relation to intrahepatic hemodynamics. Japanese Journal of Radiology 2020; 38(9): 833 doi: 10.1007/s11604-020-00978-6
171
Tadayuki Iwase, Chiaki Okai, Yuko Kamata, Akiko Tajima, Yoshimitsu Mizunoe. A straightforward assay for measuring glycogen levels and RpoS. Journal of Microbiological Methods 2018; 145: 93 doi: 10.1016/j.mimet.2017.12.008
172
Ersin Gümüş, Hasan Özen. Glycogen storage diseases: An update. World Journal of Gastroenterology 2023; 29(25): 3932-3963 doi: 10.3748/wjg.v29.i25.3932
173
Natalie Pursell, Jessica Gierut, Wei Zhou, Michael Dills, Rohan Diwanji, Monika Gjorgjieva, Utsav Saxena, Jr-Shiuan Yang, Anee Shah, Nandini Venkat, Rachel Storr, Boyoung Kim, Weimin Wang, Marc Abrams, Margaux Raffin, Gilles Mithieux, Fabienne Rajas, Henryk Dudek, Bob D. Brown, Chengjung Lai. Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases. Molecular Therapy 2018; 26(7): 1771 doi: 10.1016/j.ymthe.2018.04.023
174
Victoria Marco-Benedí, Estíbaliz Jarauta, Sofía Pérez-Calahorra, Ana M. Bea, Fernando Civeira. Treatment of a high cardiovascular risk patient with McArdle's disease with PCSK9 inhibitors. Clínica e Investigación en Arteriosclerosis (English Edition) 2019; 31(2): 89 doi: 10.1016/j.artere.2019.02.004
175
Anita Bakrania, Yulin Mo, Gang Zheng, Mamatha Bhat. RNA nanomedicine in liver diseases. Hepatology 2023;  doi: 10.1097/HEP.0000000000000606
176
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 Ia. Human Gene Therapy 2010; 21(7): 903 doi: 10.1089/hum.2009.157
177
Bruna B. dos Santos, Karina Colonetti, Tatiéle Nalin, Bibiana M. de Oliveira, Carolina F.M. de Souza, Poli Mara Spritzer, Ida V.D. Schwartz. Body composition in patients with hepatic glycogen storage diseases. Nutrition 2022; : 111763 doi: 10.1016/j.nut.2022.111763
178
Roberto De Masi, Stefania Orlando. GANAB and N-Glycans Substrates Are Relevant in Human Physiology, Polycystic Pathology and Multiple Sclerosis: A Review. International Journal of Molecular Sciences 2022; 23(13): 7373 doi: 10.3390/ijms23137373
179
Santosh B. Patil, Pramod C. Gadad. Elucidation of intermolecular interactions between chlorogenic acid and glucose-6-phosphate translocase: A step towards chemically induced glycogen storage disease type 1b model. 3 Biotech 2023; 13(7) doi: 10.1007/s13205-023-03661-5
180
Marc C. Patterson, Kenneth F. Swaiman. Swaiman's Pediatric Neurology. 2012; : 368 doi: 10.1016/B978-1-4377-0435-8.00034-2
181
Jonathan Zirin, Joppe Nieuwenhuis, Norbert Perrimon, Anne Simonsen. Role of Autophagy in Glycogen Breakdown and Its Relevance to Chloroquine Myopathy. PLoS Biology 2013; 11(11): e1001708 doi: 10.1371/journal.pbio.1001708
182
P Barton Duell. Puzzling Cases of Epilepsy. 2008; : 115 doi: 10.1016/B978-0-12-374005-2.00027-2
183
Daniela S. Allende, Lisa M. Yerian. Gastrointestinal and Liver Pathology. 2024; : 489 doi: 10.1016/B978-0-323-52794-1.00017-1
184
Nicola D. Ruth, Nigel E. Drury, James Bennett, Deirdre A. Kelly. Cardiac and Liver Disease in Children: Implications for Management Before and After Liver Transplantation. Liver Transplantation 2020; 26(3): 437 doi: 10.1002/lt.25666
185
John Hicks, Eric Wartchow, Gary Mierau. Glycogen Storage Diseases: A Brief Review and Update on Clinical Features, Genetic Abnormalities, Pathologic Features, and Treatment. Ultrastructural Pathology 2011; 35(5): 183 doi: 10.3109/01913123.2011.601404
186
Lina A. Dahabiyeh, Refat M. Nimer. Clinical Metabolomics Applications in Genetic Diseases. 2023; : 43 doi: 10.1007/978-981-99-5162-8_3
187
Aitana Almodóvar-Payá, Mónica Villarreal-Salazar, Noemí de Luna, Gisela Nogales-Gadea, Alberto Real-Martínez, Antoni L. Andreu, Miguel Angel Martín, Joaquin Arenas, Alejandro Lucia, John Vissing, Thomas Krag, Tomàs Pinós. Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models. International Journal of Molecular Sciences 2020; 21(24): 9621 doi: 10.3390/ijms21249621
188
Bashar Sharma, Marsha Antoine, Mili Shah, Rochelle Nagales Nagamos, Savio John. Glycogenic Hepatopathy. ACG Case Reports Journal 2019; 6(7): e00115 doi: 10.14309/crj.0000000000000115
189
James M. Pilcher. Clinical Ultrasound. 2011; : 104 doi: 10.1016/B978-0-7020-3131-1.00008-0
190
C.A. Maile, J.R. Hingst, K.K. Mahalingan, A.O. O'Reilly, M.E. Cleasby, J.R. Mickelson, M.E. McCue, S.M. Anderson, T.D. Hurley, J.F.P. Wojtaszewski, R.J. Piercy. A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase. Biochimica et Biophysica Acta (BBA) - General Subjects 2017; 1861(1): 3388 doi: 10.1016/j.bbagen.2016.08.021
Write to the Help Desk
© 2004-2024 Baishideng Publishing Group Inc. All rights reserved. 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

California Corporate Number: 3537345