{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,12]],"date-time":"2026-11-12T04:12:29Z","timestamp":1794456749241,"version":"4.9.1"},"reference-count":318,"publisher":"Baishideng Publishing Group Inc.","issue":"25","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["World J Gastroenterol"],"DOI":"10.3748\/wjg.v29.i25.3932","type":"journal-article","created":{"date-parts":[[2023,6,27]],"date-time":"2023-06-27T22:20:41Z","timestamp":1687904441000},"page":"3932-3963","source":"Crossref","is-referenced-by-count":106,"title":["Glycogen storage diseases: An update"],"prefix":"10.3748","volume":"29","author":[{"given":"Ersin","family":"G\u00fcm\u00fc\u015f","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan","family":"\u00d6zen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2060","published-online":{"date-parts":[[2023,7,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v13.i18.2541"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20111416"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1530\/JOE-18-0120"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1036\/ommbid.380"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1007\/BF02760476"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2018.10.59"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1097\/MCO.0000000000000181"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa066691"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1136\/adc.38.197.40"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1172\/JCI2890"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1086"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.3109\/01913123.2011.601404"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12082"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20110"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1023\/a:1021831621210"},{"key":"B16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.10.006"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.124317"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2016-0317"},{"key":"B19","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02431-5"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.5.1443"},{"key":"B21","unstructured":"Gierke EV. Hepato-nephro-megalia-glycogenica (Glykogenspeicherkrankheit der Leber und Nieren). Beitr Pathol Anat 1929; 82: 497-513"},{"key":"B22","doi-asserted-by":"crossref","unstructured":"Cori GT, Cori CF. Glucose-6-phosphatase of the liver in glycogen storage disease. J Biol Chem 1952; 199: 661-667","DOI":"10.1016\/S0021-9258(18)38504-1"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291x(78)91371-2"},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.1042\/0264-6021:3620513"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9772-x"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30232"},{"key":"B27","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21327"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(95)80131-5"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1016\/s1043-2760(98)00123-4"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-0999-4"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.3390\/nu13113828"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.24953\/turkjped.2016.01.002"},{"key":"B33","doi-asserted-by":"crossref","unstructured":"Czapek EE, Deykin D, Salzman EW. Platelet dysfunction in glycogen storage disease type I. Blood 1973; 41: 235-247","DOI":"10.1182\/blood.V41.2.235.235"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1136\/adc.51.1.49"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0184-9"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1097\/01.AOG.0000435451.86108.82"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.128"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.12.012"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.3390\/nu13092987"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.36"},{"key":"B41","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000016632.13234.56"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.41"},{"key":"B43","doi-asserted-by":"publisher","DOI":"10.1023\/a:1016572706488"},{"key":"B44","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.105232"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000592"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2022.100848"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072089"},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-120-3-199402010-00008"},{"key":"B49","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000022644"},{"key":"B50","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2017_64"},{"key":"B51","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198801073180102"},{"key":"B52","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-004-1456-6"},{"key":"B53","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.00050109"},{"key":"B54","doi-asserted-by":"publisher","DOI":"10.1038\/labinvest.2010.38"},{"key":"B55","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072091"},{"key":"B56","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(05)83422-5"},{"key":"B57","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-005-1478-7"},{"key":"B58","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-015-1732-4"},{"key":"B59","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw224"},{"key":"B60","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072092"},{"key":"B61","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.031"},{"key":"B62","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2019.11.061"},{"key":"B63","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp441"},{"key":"B64","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-67-803-1062"},{"key":"B65","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-7500-2"},{"key":"B66","doi-asserted-by":"publisher","DOI":"10.1023\/a:1005605513534"},{"key":"B67","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1008-7"},{"key":"B68","doi-asserted-by":"publisher","DOI":"10.1016\/s0891-5849(02)00863-8"},{"key":"B69","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1006-9"},{"key":"B70","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.10.048"},{"key":"B71","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.02.033"},{"key":"B72","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.685272"},{"key":"B73","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9490-1"},{"key":"B74","doi-asserted-by":"crossref","unstructured":"Ryan IP, Havel RJ, Laros RK Jr. Three consecutive pregnancies in a patient with glycogen storage disease type IA (von Gierke's disease). Am J Obstet Gynecol 1994; 170: 1687-90; discussion 1690","DOI":"10.1016\/S0002-9378(12)91836-0"},{"key":"B75","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1013-x"},{"key":"B76","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9139-x"},{"key":"B77","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0734-4"},{"key":"B78","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000009949.65855.4c"},{"key":"B79","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2000.02222.x"},{"key":"B80","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2022.100856"},{"key":"B81","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.01.003"},{"key":"B82","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-001-0139-6"},{"key":"B83","doi-asserted-by":"publisher","DOI":"10.5223\/pghn.2021.24.6.518"},{"key":"B84","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199604)16:4<333::AID-PD861>3.0.CO;2-G"},{"key":"B85","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1016-7"},{"key":"B86","doi-asserted-by":"publisher","DOI":"10.1136\/adc.74.6.546"},{"key":"B87","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_488"},{"key":"B88","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9322-8"},{"key":"B89","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab297"},{"key":"B90","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02292.x"},{"key":"B91","doi-asserted-by":"publisher","DOI":"10.1023\/a:1005608113270"},{"key":"B92","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0372-0"},{"key":"B93","doi-asserted-by":"publisher","DOI":"10.1159\/000283242"},{"key":"B94","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_23"},{"key":"B95","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196810312791803"},{"key":"B96","doi-asserted-by":"publisher","DOI":"10.1007\/BF01732001"},{"key":"B97","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050856"},{"key":"B98","doi-asserted-by":"publisher","DOI":"10.1086\/301727"},{"key":"B99","doi-asserted-by":"publisher","DOI":"10.1023\/a:1005677912539"},{"key":"B100","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2016.11.075"},{"key":"B101","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0b013e328331df85"},{"key":"B102","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-08-2576"},{"key":"B103","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2000.107472"},{"key":"B104","doi-asserted-by":"publisher","DOI":"10.1002\/cap.10112"},{"key":"B105","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-005-1657-4"},{"key":"B106","doi-asserted-by":"publisher","DOI":"10.1016\/j.transproceed.2006.10.160"},{"key":"B107","doi-asserted-by":"publisher","DOI":"10.1007\/pl00014320"},{"key":"B108","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-019-03499-1"},{"key":"B109","unstructured":"Saltik-Temizel IN, Ko\u00e7ak N, Ozen H, Y\u00fcce A, G\u00fcrakan F, Demir H. Inflammatory bowel disease-like colitis in a young Turkish child with glycogen storage disease type 1b and elevated platelet count. Turk J Pediatr 2005; 47: 180-182"},{"key":"B110","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(86)80572-8"},{"key":"B111","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1011-z"},{"key":"B112","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-1010-0"},{"key":"B113","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2020.100581"},{"key":"B114","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v9.i19.5280"},{"key":"B115","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0774-9"},{"key":"B116","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0810-4"},{"key":"B117","doi-asserted-by":"publisher","DOI":"10.1186\/1824-7288-40-30"},{"key":"B118","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.11.056"},{"key":"B119","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.1601946"},{"key":"B120","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(05)80290-2"},{"key":"B121","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90324-i"},{"key":"B122","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199206183262504"},{"key":"B123","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.22706"},{"key":"B124","doi-asserted-by":"publisher","DOI":"10.1097\/MOH.0000000000000474"},{"key":"B125","doi-asserted-by":"publisher","DOI":"10.1080\/08880018.2018.1440675"},{"key":"B126","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0889-5"},{"key":"B127","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2009.05.026"},{"key":"B128","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-47"},{"key":"B129","doi-asserted-by":"publisher","DOI":"10.1023\/a:1005544117285"},{"key":"B130","doi-asserted-by":"publisher","DOI":"10.1016\/s0041-1345(02)03951-9"},{"key":"B131","doi-asserted-by":"publisher","DOI":"10.1111\/petr.13872"},{"key":"B132","doi-asserted-by":"crossref","unstructured":"Emmett M, Narins RG. Renal tranplantation in type 1 glycogenosis. Failure to improve glucose metabolism. JAMA 1978; 239: 1642-1644","DOI":"10.1001\/jama.239.16.1642"},{"key":"B133","doi-asserted-by":"publisher","DOI":"10.1002\/Lt.21151"},{"key":"B134","doi-asserted-by":"publisher","DOI":"10.1002\/lt.25649"},{"key":"B135","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1816143116"},{"key":"B136","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019004465"},{"key":"B137","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.1071464"},{"key":"B138","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.27264"},{"key":"B139","doi-asserted-by":"publisher","DOI":"10.5114\/aoms\/150029"},{"key":"B140","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12295"},{"key":"B141","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02345-2"},{"key":"B142","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12509"},{"key":"B143","doi-asserted-by":"publisher","DOI":"10.1111\/ped.14629"},{"key":"B144","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01503-8"},{"key":"B145","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.04.001"},{"key":"B146","doi-asserted-by":"publisher","DOI":"10.1517\/14712598.2011.578067"},{"key":"B147","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx325"},{"key":"B148","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0180-5"},{"key":"B149","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0199-7"},{"key":"B150","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gt.3302869"},{"key":"B151","doi-asserted-by":"publisher","DOI":"10.1038\/mt.2016.35"},{"key":"B152","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2020.04.124"},{"key":"B153","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605752"},{"key":"B154","doi-asserted-by":"publisher","DOI":"10.1016\/s0378-1119(97)00291-6"},{"key":"B155","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0611"},{"key":"B156","doi-asserted-by":"crossref","unstructured":"Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT. A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Eur J Hum Genet 1997; 5: 266-270","DOI":"10.1159\/000484776"},{"key":"B157","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200632"},{"key":"B158","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.140840"},{"key":"B159","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118799"},{"key":"B160","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181d94eaa"},{"key":"B161","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(05)81652-x"},{"key":"B162","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1967.tb00134.x"},{"key":"B163","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9811-2"},{"key":"B164","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0919-5"},{"key":"B165","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800225"},{"key":"B166","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0561-7"},{"key":"B167","doi-asserted-by":"publisher","DOI":"10.1097\/00004836-200007000-00020"},{"key":"B168","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2006.09.022"},{"key":"B169","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199703000-00008"},{"key":"B170","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9932-2"},{"key":"B171","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9426"},{"key":"B172","doi-asserted-by":"publisher","DOI":"10.1007\/BF02436768"},{"key":"B173","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-116-11-896"},{"key":"B174","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1669786"},{"key":"B175","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-015-2546-0"},{"key":"B176","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181e655b6"},{"key":"B177","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420514"},{"key":"B178","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12355"},{"key":"B179","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443106"},{"key":"B180","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181e0e979"},{"key":"B181","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2018-0151"},{"key":"B182","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_118"},{"key":"B183","doi-asserted-by":"publisher","DOI":"10.23736\/S0026-4946.19.05496-3"},{"key":"B184","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200204000-00008"},{"key":"B185","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0830-0"},{"key":"B186","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2016.02.012"},{"key":"B187","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1995.tb02686.x"},{"key":"B188","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21201"},{"key":"B189","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9789-1"},{"key":"B190","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e318232154f"},{"key":"B191","unstructured":"Francini-Pesenti F, Tresso S, Vitturi N. Modified Atkins ketogenic diet improves heart and skeletal muscle function in glycogen storage disease type III. Acta Myol 2019; 38: 17-20"},{"key":"B192","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2022.100904"},{"key":"B193","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2011_111"},{"key":"B194","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9756-x"},{"key":"B195","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3046.2007.00803.x"},{"key":"B196","unstructured":"Andersen DH. Familial cirrhosis of the liver with storage of abnormal glycogen. Lab Invest 1956; 5: 11-20"},{"key":"B197","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.56.2.725"},{"key":"B198","doi-asserted-by":"publisher","DOI":"10.2174\/1566524024605815"},{"key":"B199","doi-asserted-by":"crossref","unstructured":"Thon VJ, Khalil M, Cannon JF. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast. J Biol Chem 1993; 268: 7509-7513","DOI":"10.1016\/S0021-9258(18)53204-X"},{"key":"B200","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30945"},{"key":"B201","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12339"},{"key":"B202","doi-asserted-by":"publisher","DOI":"10.1136\/adc.82.6.479"},{"key":"B203","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840080219"},{"key":"B204","doi-asserted-by":"publisher","DOI":"10.1007\/BF00334454"},{"key":"B205","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(87)80341-4"},{"key":"B206","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000138429.11433.0d"},{"key":"B207","doi-asserted-by":"publisher","DOI":"10.1023\/a:1005568507267"},{"key":"B208","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1533"},{"key":"B209","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(72)80144-6"},{"key":"B210","unstructured":"McMaster KR, Powers JM, Hennigar GR Jr, Wohltmann HJ, Farr GH Jr. Nervous system involvement in type IV glycogenosis. Arch Pathol Lab Med 1979; 103: 105-111"},{"key":"B211","doi-asserted-by":"publisher","DOI":"10.1023\/b:boli.0000042980.45692.bb"},{"key":"B212","doi-asserted-by":"publisher","DOI":"10.1016\/s0387-7604(12)80277-4"},{"key":"B213","doi-asserted-by":"publisher","DOI":"10.1007\/BF01804250"},{"key":"B214","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510x(83)90144-2"},{"key":"B215","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300505"},{"key":"B216","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2010.03282.x"},{"key":"B217","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e3181d29780"},{"key":"B218","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-9026-5"},{"key":"B219","doi-asserted-by":"publisher","DOI":"10.1016\/0002-8223(93)92246-t"},{"key":"B220","doi-asserted-by":"publisher","DOI":"10.5114\/aoms.2018.72246"},{"key":"B221","doi-asserted-by":"publisher","DOI":"10.1002\/Lt.500010607"},{"key":"B222","doi-asserted-by":"publisher","DOI":"10.1007\/BF01954384"},{"key":"B223","doi-asserted-by":"publisher","DOI":"10.5223\/pghn.2018.21.4.365"},{"key":"B224","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.633822"},{"key":"B225","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199101033240107"},{"key":"B226","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199303183281101"},{"key":"B227","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.99694"},{"key":"B228","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.202114554"},{"key":"B229","unstructured":"Hers HG. [Enzymatic studies of hepatic fragments; application to the classification of glycogenoses]. Rev Int Hepatol 1959; 9: 35-55"},{"key":"B230","doi-asserted-by":"publisher","DOI":"10.3109\/10409238909082552"},{"key":"B231","unstructured":"Newgard CB, Fletterick RJ, Anderson LA, Lebo RV. The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. Am J Hum Genet 1987; 40: 351-364"},{"key":"B232","doi-asserted-by":"publisher","DOI":"10.3390\/genes12081205"},{"key":"B233","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.09.005"},{"key":"B234","doi-asserted-by":"publisher","DOI":"10.1016\/s1096-7192(03)00068-4"},{"key":"B235","doi-asserted-by":"publisher","DOI":"10.1086\/301790"},{"key":"B236","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0364-2"},{"key":"B237","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24345"},{"key":"B238","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0499-9"},{"key":"B239","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9744-1"},{"key":"B240","doi-asserted-by":"publisher","DOI":"10.1016\/j.transproceed.2011.01.129"},{"key":"B241","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2010.03073.x"},{"key":"B242","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2020-0173"},{"key":"B243","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.03.009"},{"key":"B244","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.6.2096"},{"key":"B245","doi-asserted-by":"publisher","DOI":"10.2741\/brushia"},{"key":"B246","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050608"},{"key":"B247","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1996.0374z.x"},{"key":"B248","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1322"},{"key":"B249","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200x.2005.02131.x"},{"key":"B250","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2013.08.026"},{"key":"B251","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(73)80544-x"},{"key":"B252","doi-asserted-by":"publisher","DOI":"10.1007\/BF02106291"},{"key":"B253","doi-asserted-by":"publisher","DOI":"10.1023\/a:1024071328772"},{"key":"B254","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050715"},{"key":"B255","doi-asserted-by":"publisher","DOI":"10.5223\/pghn.2015.18.2.138"},{"key":"B256","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e31823276ea"},{"key":"B257","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.01.003"},{"key":"B258","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.10.004"},{"key":"B259","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-337"},{"key":"B260","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.12.008"},{"key":"B261","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-2223-0"},{"key":"B262","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.1.149"},{"key":"B263","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.376"},{"key":"B264","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2019-0603"},{"key":"B265","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.7.1109"},{"key":"B266","doi-asserted-by":"publisher","DOI":"10.1016\/j.dld.2020.04.017"},{"key":"B267","doi-asserted-by":"publisher","DOI":"10.1007\/BF00849262"},{"key":"B268","unstructured":"FANCONI G, BICKEL H. [Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease]. Helv Paediatr Acta 1949; 4: 359-396"},{"key":"B269","doi-asserted-by":"crossref","unstructured":"Saltik-Temizel IN, Co\u015fkun T, Y\u00fcce A, Ko\u00e7ak N. Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. Turk J Pediatr 2005; 47: 167-169","DOI":"10.24953\/turkjped.2005.2706"},{"key":"B270","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.15.5434"},{"key":"B271","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-324"},{"key":"B272","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines10092114"},{"key":"B273","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-011-0373-5"},{"key":"B274","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1981.tb05735.x"},{"key":"B275","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1584360"},{"key":"B276","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02387-6"},{"key":"B277","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-022-04372-0"},{"key":"B278","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0385-x"},{"key":"B279","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21176286"},{"key":"B280","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20102590"},{"key":"B281","doi-asserted-by":"publisher","DOI":"10.1023\/a:1005375629820"},{"key":"B282","doi-asserted-by":"publisher","DOI":"10.1007\/BF00711753"},{"key":"B283","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12203"},{"key":"B284","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90218-j"},{"key":"B285","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0102-z"},{"key":"B286","unstructured":"Leslie N, Bailey L. Pompe Disease. 2007 Aug 31. In: GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u2013"},{"key":"B287","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410220512"},{"key":"B288","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00557.x"},{"key":"B289","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.03.010"},{"key":"B290","doi-asserted-by":"crossref","unstructured":"Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan JA, Hoganson GE, Phillips JA 3rd, Schaefer GB, Charrow J, Ware RE, Bossen EH, Chen YT. Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I\/II clinical trial. Genet Med 2001; 3: 132-138","DOI":"10.1097\/00125817-200103000-00008"},{"key":"B291","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-021-01600-3"},{"key":"B292","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13285"},{"key":"B293","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2019.08.005"},{"key":"B294","doi-asserted-by":"crossref","unstructured":"Umapathysivam K, Whittle AM, Ranieri E, Bindloss C, Ravenscroft EM, van Diggelen OP, Hopwood JJ, Meikle PJ. Determination of acid alpha-glucosidase protein: evaluation as a screening marker for Pompe disease and other lysosomal storage disorders. Clin Chem 2000; 46: 1318-1325","DOI":"10.1093\/clinchem\/46.9.1318"},{"key":"B295","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2200587"},{"key":"B296","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02175-2"},{"key":"B297","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-022-01249-y"},{"key":"B298","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2019.04.67"},{"key":"B299","doi-asserted-by":"publisher","DOI":"10.1038\/cddis.2016.475"},{"key":"B300","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12587"},{"key":"B301","doi-asserted-by":"publisher","DOI":"10.1016\/j.abb.2022.109340"},{"key":"B302","doi-asserted-by":"publisher","DOI":"10.1016\/j.jneb.2020.05.005"},{"key":"B303","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e3181462b86"},{"key":"B304","doi-asserted-by":"publisher","DOI":"10.1007\/BF00205166"},{"key":"B305","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01562-x"},{"key":"B306","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12438"},{"key":"B307","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.10.006"},{"key":"B308","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25771"},{"key":"B309","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0250"},{"key":"B310","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.11.1983"},{"key":"B311","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.945280"},{"key":"B312","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104283"},{"key":"B313","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90013-3"},{"key":"B314","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291x(90)92374-9"},{"key":"B315","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-022-01228-3"},{"key":"B316","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283044"},{"key":"B317","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1095"},{"key":"B318","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0900661"}],"container-title":["World Journal of Gastroenterology"],"original-title":[],"link":[{"URL":"https:\/\/www.wjgnet.com\/1007-9327\/full\/v29\/i25\/3932.htm","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.wjgnet.com\/1007-9327\/full\/v29\/i25\/3932.htm","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T01:17:23Z","timestamp":1729646243000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.wjgnet.com\/1007-9327\/full\/v29\/i25\/3932.htm"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,7]]},"references-count":318,"journal-issue":{"issue":"25"},"URL":"https:\/\/doi.org\/10.3748\/wjg.v29.i25.3932","relation":{},"ISSN":["1007-9327"],"issn-type":[{"value":"1007-9327","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7,7]]}}}