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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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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
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D. Robert Dufour. Tietz Textbook of Clinical Chemistry and Molecular Diagnostics2012; : 1637 doi: 10.1016/B978-1-4160-6164-9.00050-0
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Raymond Quigley, Matthias T. F. Wolf. Pediatric Nephrology2016; : 1273 doi: 10.1007/978-3-662-43596-0_35
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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 studyArab Journal of Gastroenterology 2014; 15(2): 63 doi: 10.1016/j.ajg.2014.01.013
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Patrick Koo, Jigme M. Sethi. Metabolic Myopathies and the Respiratory SystemClinics in Chest Medicine 2018; 39(2): 401 doi: 10.1016/j.ccm.2018.02.001
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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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Nadia Ovchinsky, Roger K. Moreira, Jay H. Lefkowitch, Joel E. Lavine. Liver Biopsy in Modern Clinical PracticeAdvances in Anatomic Pathology 2012; 19(4): 250 doi: 10.1097/PAP.0b013e31825c6a20
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Priya S. Kishnani, Jennifer Goldstein, Stephanie L. Austin, Pamela Arn, Bert Bachrach, Deeksha S. Bali, Wendy K. Chung, Areeg El-Gharbawy, Laurie M. Brown, Stephen Kahler, Surekha Pendyal, Katalin M. Ross, Laurie Tsilianidis, David A. Weinstein, Michael S. Watson. Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Genetics in Medicine 2019; 21(4): 772 doi: 10.1038/s41436-018-0364-2
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Christian J. Hendriksz, Paul Gissen. Glycogen storage diseasePaediatrics and Child Health 2015; 25(3): 139 doi: 10.1016/j.paed.2014.10.007
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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 literatureMedicine 2020; 99(42): e22644 doi: 10.1097/MD.0000000000022644
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K. T. T. Corley. Metabolic disorders in foalsEquine Veterinary Education 2012; 24(8): 392 doi: 10.1111/j.2042-3292.2011.00376.x
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Ana I Vega, Celia Medrano, Rosa Navarrete, Lourdes R Desviat, Begoña Merinero, Pilar Rodríguez-Pombo, Isidro Vitoria, Magdalena Ugarte, Celia Pérez-Cerdá, Belen Pérez. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencingGenetics in Medicine 2016; 18(10): 1037 doi: 10.1038/gim.2015.217
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Richard Godfrey, Ros Quinlivan. Skeletal muscle disorders of glycogenolysis and glycolysisNature Reviews Neurology 2016; 12(7): 393 doi: 10.1038/nrneurol.2016.75
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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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Raymond Quigley, Matthias T. F. Wolf. Pediatric Nephrology2014; : 1 doi: 10.1007/978-3-642-27843-3_35-1
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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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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 reportJournal of Medical Case Reports 2008; 2(1) doi: 10.1186/1752-1947-2-319
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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
21
Alberto Molares-Vila, Alberte Corbalán-Rivas, Miguel Carnero-Gregorio, José Luís González-Cespón, Carmen Rodríguez-Cerdeira. Biomarkers in Glycogen Storage Diseases: An UpdateInternational Journal of Molecular Sciences 2021; 22(9): 4381 doi: 10.3390/ijms22094381
22
E. Mutel, A. Gautier-Stein, A. Abdul-Wahed, M. Amigo-Correig, C. Zitoun, A. Stefanutti, I. Houberdon, J.-A. Tourette, G. Mithieux, F. Rajas. Control of Blood Glucose in the Absence of Hepatic Glucose Production During Prolonged Fasting in Mice: Induction of Renal and Intestinal Gluconeogenesis by GlucagonDiabetes 2011; 60(12): 3121 doi: 10.2337/db11-0571
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C. Domínguez-González, M.A. Martín-Casanueva. Miopatías metabólicas, mitocondriales y tóxicasMedicine - Programa de Formación Médica Continuada Acreditado 2019; 12(76): 4497 doi: 10.1016/j.med.2019.04.004
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Susmita Kaushik, Ana Maria Cuervo. The Liver2020; : 122 doi: 10.1002/9781119436812.ch11
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Hayriye Hizarcioglu-Gulsen, Aysel Yuce, Zuhal Akcoren, Burcu Berberoglu-Ates, Yusuf Aydemir, Erdal Sag, Serdar Ceylaner. JIMD Reports, Volume 17JIMD Reports 2014; 17: 63 doi: 10.1007/8904_2014_335
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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
27
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
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Vishrutha Poojari, Ira Shah, Naman S Shetty, Sonal Mirani, Drishti Tolani. Clinical profile and outcome of glycogen storage disease in Indian childrenTropical Doctor 2021; 51(2): 189 doi: 10.1177/0049475520961935
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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 ratsCanadian Journal of Physiology and Pharmacology 2020; 98(1): 44 doi: 10.1139/cjpp-2019-0295
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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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Solange Heller, Liliana Worona, Alejandra Consuelo. Nutritional Therapy for Glycogen Storage DiseasesJournal of Pediatric Gastroenterology & Nutrition 2008; 47(Suppl 1): S15 doi: 10.1097/MPG.0b013e3181818ea5
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Kavitha Mukund, Shankar Subramaniam. Skeletal muscle: A review of molecular structure and function, in health and diseaseWIREs Systems Biology and Medicine 2020; 12(1) doi: 10.1002/wsbm.1462
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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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Muscle Biopsy: A Practical Approach2013; : 423 doi: 10.1016/B978-0-7020-4340-6.00017-3
35
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
36
Gary C. Kanel, Jacob Korula. Atlas of Liver Pathology2011; : 194 doi: 10.1016/B978-1-4377-0765-6.10008-4
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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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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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Idan Hekselman, Esti Yeger-Lotem. Mechanisms of tissue and cell-type specificity in heritable traits and diseasesNature Reviews Genetics 2020; 21(3): 137 doi: 10.1038/s41576-019-0200-9
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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
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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 studiesMolecular Genetics and Metabolism 2011; 104(1-2): 137 doi: 10.1016/j.ymgme.2011.05.010
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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 reportsBMC Medical Genetics 2020; 21(1) doi: 10.1186/s12881-020-01010-4
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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 ReportClinical Advances in Periodontics 2020; 10(3): 150 doi: 10.1002/cap.10112
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Ilaria Granata, Mara Sangiovanni, Francesco Maiorano, Marco Miele, Mario Rosario Guarracino. Var2GO: a web-based tool for gene variants selectionBMC Bioinformatics 2016; 17(S12) doi: 10.1186/s12859-016-1197-0
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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 GuidelinesPediatric pharmacology 2020; 17(4): 303 doi: 10.15690/pf.v17i4.2159
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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 adenomasJournal of Hepatology 2011; 54(3): 529 doi: 10.1016/j.jhep.2010.08.014
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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 childrenJournal of Inherited Metabolic Disease 2013; 36(1): 75 doi: 10.1007/s10545-012-9514-x
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Suchitra K. Hourigan, Michael Torbenson, Eric Tibesar, Ann O. Scheimann. The Full Spectrum of Hepatic Steatosis in ChildrenClinical Pediatrics 2015; 54(7): 635 doi: 10.1177/0009922814566927
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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
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Manuela França, João Pinheiro Amorim. Imaging of the Liver and Intra-hepatic Biliary TractMedical Radiology 2021; : 267 doi: 10.1007/978-3-030-38983-3_14
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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 VIThe Journal of Molecular Diagnostics 2020; 22(12): 1373 doi: 10.1016/j.jmoldx.2020.08.006
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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 Development 2019;  doi: 10.1242/dev.176149
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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 MiceScientific Reports 2019; 9(1) doi: 10.1038/s41598-019-52001-2
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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 reportEuropean Heart Journal - Case Reports 2019; 3(2) doi: 10.1093/ehjcr/ytz038
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M.-C. Vantyghem, C. Mention, D. Dobbelaere, C. Douillard. Hypoglycémies et manifestations endocriniennes des maladies héréditaires du métabolisme chez l’adulteAnnales d'Endocrinologie 2009; 70(1): 25 doi: 10.1016/j.ando.2008.12.007
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Sameer M. Mazhar, Lance L. Stein, Silvana C. Faria, Michael R. Peterson, Claude B. Sirlin. Abdominal Imaging2011; : 630 doi: 10.1016/B978-1-4160-5449-8.00068-8
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Humaira N. Adenwalla, Carolyn R. O'Connor. Catastrophic Axial Gout Causing Paraplegia in a Patient With Glycogen Storage DiseaseJCR: Journal of Clinical Rheumatology 2011; 17(7): 387 doi: 10.1097/RHU.0b013e318236847d
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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 dysbiosisPLOS ONE 2019; 14(4): e0214582 doi: 10.1371/journal.pone.0214582
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Natália Bauab Jorge, Adriana Maria Alves de Tommaso, Gabriel Hessel. ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE IRevista Paulista de Pediatria 2021; 39 doi: 10.1590/1984-0462/2021/39/2020046
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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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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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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 DiseasesNutrients 2021; 13(9): 2987 doi: 10.3390/nu13092987
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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 IbOphthalmic Genetics 2017; 38(6): 544 doi: 10.1080/13816810.2017.1323340
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Leonidas G. Karagounis, John A. Hawley. Genetic and Molecular Aspects of Sport Performance2010; : 240 doi: 10.1002/9781444327335.ch21
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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
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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 InfarctionThe Journal of Clinical Endocrinology & Metabolism 2021; 106(2): 372 doi: 10.1210/clinem/dgaa855
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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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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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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 ratsAmerican Journal of Physiology-Endocrinology and Metabolism 2012; 302(4): E409 doi: 10.1152/ajpendo.00453.2011
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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 StudyJournal of Inborn Errors of Metabolism and Screening 2017; 5: 232640981773301 doi: 10.1177/2326409817733014
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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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María Clemente, Miquel Gussinyer, José Antonio Arranz, Encarnació Riudor, Diego Yeste, Marian Albisu, Antonio Carrascosa. Glycogen Storage Disease Type III with HypoketosisJournal of Pediatric Endocrinology and Metabolism 2010; 23(8) doi: 10.1515/jpem.2010.134
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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 ShanghaiOrphanet Journal of Rare Diseases 2021; 16(1) doi: 10.1186/s13023-021-01830-4
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Raymond Quigley. Pediatric Nephrology2009; : 979 doi: 10.1007/978-3-540-76341-3_39
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Amy E. Taylor. 50 Years Ago in The Journal of PediatricsThe Journal of Pediatrics 2015; 167(5): 1041 doi: 10.1016/j.jpeds.2015.05.011
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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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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 metabolismMolecular Genetics and Metabolism 2021; 132(1): 1 doi: 10.1016/j.ymgme.2020.12.289
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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 levelsHuman Molecular Genetics 2020; 29(2): 264 doi: 10.1093/hmg/ddz283
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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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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) databaseGastroenterology Report 2021; 9(1): 38 doi: 10.1093/gastro/goaa091
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Ioannis Gounaris, James D Brenton. Molecular pathogenesis of ovarian clear cell carcinomaFuture Oncology 2015; 11(9): 1389 doi: 10.2217/fon.15.45
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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 NetherlandsNeuromuscular Disorders 2021; 31(5): 466 doi: 10.1016/j.nmd.2021.01.010
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