{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,5]],"date-time":"2026-09-05T05:07:42Z","timestamp":1788584862138,"version":"build-2803163510"},"reference-count":44,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"funder":[{"name":"Science Fund of Republic of Serbia","award":["6999"],"award-info":[{"award-number":["6999"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Diagn Ther"],"published-print":{"date-parts":[[2025,9]]},"DOI":"10.1007\/s40291-025-00795-5","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T08:31:19Z","timestamp":1750321879000},"page":"655-673","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy"],"prefix":"10.1007","volume":"29","author":[{"given":"Maja Djordjevic","family":"Milosevic","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Skakic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bozica","family":"Kecman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Stankovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivona","family":"Kovacevic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Pavlovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"Stojiljkovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,6,19]]},"reference":[{"issue":"11","key":"795_CR1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.128","volume":"16","author":"PS Kishnani","year":"2014","unstructured":"Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014;16(11): e1. https:\/\/doi.org\/10.1038\/gim.2014.128.","journal-title":"Genet Med"},{"issue":"Suppl 1","key":"795_CR2","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1007\/s00431-002-0999-4","volume":"161","author":"JP Rake","year":"2002","unstructured":"Rake JP, Visser G, Labrune P, et al. Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 2002;161(Suppl 1):20\u201334. https:\/\/doi.org\/10.1007\/s00431-002-0999-4.","journal-title":"Eur J Pediatr"},{"issue":"3","key":"795_CR3","doi-asserted-by":"publisher","first-page":"511","DOI":"10.1007\/s10545-014-9772-x","volume":"38","author":"JY Chou","year":"2015","unstructured":"Chou JY, Jun HS, Mansfield BC. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase\/glucose-6-phosphate transporter complexes. J Inherit Metab Dis. 2015;38(3):511\u20139. https:\/\/doi.org\/10.1007\/s10545-014-9772-x.","journal-title":"J Inherit Metab Dis"},{"key":"795_CR4","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1186\/1750-1172-6-27-","volume":"6","author":"R Froissart","year":"2011","unstructured":"Froissart R, Piraud M, Boudjemline AM, et al. Glucose-6-phosphatase deficiency. Orphanet J Rare Dis. 2011;6:27. https:\/\/doi.org\/10.1186\/1750-1172-6-27-.","journal-title":"Orphanet J Rare Dis"},{"key":"795_CR5","doi-asserted-by":"publisher","first-page":"45","DOI":"10.3233\/TRD-160006","volume":"1","author":"MA Chena","year":"2016","unstructured":"Chena MA, Weinstein DA. Glycogen storage diseases: diagnosis, treatment and outcome. Transl Sci Rare Dis. 2016;1:45\u201372. https:\/\/doi.org\/10.3233\/TRD-160006.","journal-title":"Transl Sci Rare Dis."},{"key":"795_CR6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2020.100581","volume":"23","author":"C Wickera","year":"2020","unstructured":"Wickera C, Rodab C, Perryc A, et al. Infectious and digestive complications in glycogen storage disease type Ib: Study of a French cohort. Mol Genet Metab Rep. 2020;23: 100581. https:\/\/doi.org\/10.1016\/j.ymgmr.2020.100581.","journal-title":"Mol Genet Metab Rep."},{"key":"795_CR7","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1067\/mpd.2000.105232","volume":"137","author":"G Visser","year":"2000","unstructured":"Visser G, Rake JP, Fernandes J, et al. Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I. J Pediatr. 2000;137:187\u201391. https:\/\/doi.org\/10.1067\/mpd.2000.105232.","journal-title":"J Pediatr"},{"issue":"4","key":"795_CR8","doi-asserted-by":"publisher","first-page":"1241","DOI":"10.1073\/pnas.1816143116","volume":"116","author":"M Veiga-da-Cunha","year":"2019","unstructured":"Veiga-da-Cunha M, Chevalier N, Stephenne X, et al. Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency. Proc Natl Acad Sci USA. 2019;116(4):1241\u201350. https:\/\/doi.org\/10.1073\/pnas.1816143116.","journal-title":"Proc Natl Acad Sci USA"},{"key":"795_CR9","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1186\/s13023-020-01503-8","volume":"15","author":"SC Gr\u00fcnert","year":"2020","unstructured":"Gr\u00fcnert SC, Elling R, Maag B, et al. Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib. Orphanet J Rare Dis. 2020;15:218. https:\/\/doi.org\/10.1186\/s13023-020-01503-8.","journal-title":"Orphanet J Rare Dis"},{"key":"795_CR10","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1097\/MOH.0000000000000474","volume":"26","author":"DC Dale","year":"2019","unstructured":"Dale DC, Bolyard AA, Marrero T, et al. Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor. Curr Opin Hematol. 2019;26:16\u201321. https:\/\/doi.org\/10.1097\/MOH.0000000000000474.","journal-title":"Curr Opin Hematol"},{"issue":"Suppl 1","key":"795_CR11","doi-asserted-by":"publisher","first-page":"S83","DOI":"10.1007\/s00431-002-1010-0","volume":"161","author":"G Visser","year":"2002","unstructured":"Visser G, Rake JP, Labrune P, et al. Granulocyte colony-stimulating factor in glycogen storage disease type 1b: results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr. 2002;161(Suppl 1):S83\u20137. https:\/\/doi.org\/10.1007\/s00431-002-1010-0.","journal-title":"Eur J Pediatr"},{"key":"795_CR12","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1182\/blood.2019004465","volume":"136","author":"SB Wortmann","year":"2020","unstructured":"Wortmann SB, Van Hove JLK, Derks TGJ, et al. Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor. Blood. 2020;136:1033\u201343. https:\/\/doi.org\/10.1182\/blood.2019004465.","journal-title":"Blood"},{"key":"795_CR13","doi-asserted-by":"publisher","first-page":"1803","DOI":"10.3390\/diagnostics13101803","volume":"13","author":"M Veiga-da-Cunha","year":"2023","unstructured":"Veiga-da-Cunha M, Wortmann SB, Gr\u00fcnert SC, Van Schaftingen E. Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors. Diagnostics. 2023;13:1803. https:\/\/doi.org\/10.3390\/diagnostics13101803.","journal-title":"Diagnostics"},{"issue":"11","key":"795_CR14","doi-asserted-by":"publisher","first-page":"2790","DOI":"10.1182\/bloodadvances.2023012403","volume":"8","author":"M Kaczor","year":"2024","unstructured":"Kaczor M, Malicki S, Folkert J, Dobosz E, et al. Neutrophil functions in patients with neutropenia due to glycogen storage disease type 1b treated with empagliflozin. Blood Adv. 2024;8(11):2790\u2013802. https:\/\/doi.org\/10.1182\/bloodadvances.2023012403.","journal-title":"Blood Adv"},{"key":"795_CR15","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1111\/cge.13093","volume":"93","author":"A Skakic","year":"2018","unstructured":"Skakic A, Djordjevic M, Sarajlija A, et al. Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants. Clin Genet. 2018;93:350\u20135. https:\/\/doi.org\/10.1111\/cge.13093.","journal-title":"Clin Genet"},{"issue":"5","key":"795_CR16","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, ACMG Laboratory Quality Assurance Committee, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"issue":"1","key":"795_CR17","doi-asserted-by":"publisher","first-page":"492","DOI":"10.1182\/hematology.2021000284","volume":"2021","author":"JA Connelly","year":"2021","unstructured":"Connelly JA, Walkovich K. Diagnosis and therapeutic decision-making for the neutropenic patient. Hematol Am Soc Hematol Educ Program. 2021;2021(1):492\u20135. https:\/\/doi.org\/10.1182\/hematology.2021000284.","journal-title":"Hematol Am Soc Hematol Educ Program"},{"issue":"8","key":"795_CR18","doi-asserted-by":"publisher","first-page":"1781","DOI":"10.1016\/j.gim.2022.04.001","volume":"24","author":"SC Gr\u00fcnert","year":"2022","unstructured":"Gr\u00fcnert SC, Derks TGJ, Adrian K, et al. Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire. Genet Med. 2022;24(8):1781\u20138. https:\/\/doi.org\/10.1016\/j.gim.2022.04.001.","journal-title":"Genet Med"},{"issue":"2","key":"795_CR19","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1002\/jimd.12714","volume":"47","author":"TGJ Derks","year":"2024","unstructured":"Derks TGJ, Venema A, K\u00f6ller C, et al. Repurposing empagliflozin in individuals with glycogen storage disease Ib: a value-based healthcare approach and systematic benefit-risk assessment. J Inherit Metab Dis. 2024;47(2):244\u201354. https:\/\/doi.org\/10.1002\/jimd.12714.","journal-title":"J Inherit Metab Dis"},{"issue":"5","key":"795_CR20","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1023\/b:boli.0000042987.43395.c6","volume":"27","author":"P Trioche","year":"2004","unstructured":"Trioche P, Petit F, Francoual J, et al. Allelic heterogeneity of glycogen storage disease type Ib in French patients: a study of 11 cases. J Inherit Metab Dis. 2004;27(5):621\u20133. https:\/\/doi.org\/10.1023\/b:boli.0000042987.43395.c6.","journal-title":"J Inherit Metab Dis"},{"key":"795_CR21","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1002\/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8","volume":"18","author":"Z Beyzaei","year":"2019","unstructured":"Beyzaei Z, Geramizadeh B. Molecular diagnosis of glycogen storage disease type I: a review. EXCLI J. 2019;18:30\u201346. https:\/\/doi.org\/10.1002\/1098-1004(200008)16:2%3c177::AID-HUMU13%3e3.0.CO;2-8.","journal-title":"EXCLI J"},{"issue":"6","key":"795_CR22","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1007\/s10545-007-0734-4","volume":"30","author":"P Paesold-Burda","year":"2007","unstructured":"Paesold-Burda P, Baumgartner MR, Santer R, et al. Elevated serum biotinidase activity in hepatic glycogen storage disorders\u2013a convenient biomarker. J Inherit Metab Dis. 2007;30(6):896\u2013902. https:\/\/doi.org\/10.1007\/s10545-007-0734-4.","journal-title":"J Inherit Metab Dis"},{"issue":"2","key":"795_CR23","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1002\/1098-1004(200008)16:2<177::AID-HUMU13>3.0.CO;2-8","volume":"16","author":"R Santer","year":"2000","unstructured":"Santer R, Rischewski J, Block G, et al. Molecular analysis in glycogen storage disease 1 non-a: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients. Hum Mutat. 2000;16(2):177. https:\/\/doi.org\/10.1002\/1098-1004(200008)16:2%3c177::AID-HUMU13%3e3.0.CO;2-8.","journal-title":"Hum Mutat"},{"issue":"25","key":"795_CR24","doi-asserted-by":"publisher","first-page":"3199","DOI":"10.1093\/hmg\/11.25.3199","volume":"11","author":"LY Chen","year":"2002","unstructured":"Chen LY, Pan CJ, Shieh JJ, Chou JY. Structure\u2013function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib. Hum Mol Genet. 2002;11(25):3199\u2013207. https:\/\/doi.org\/10.1093\/hmg\/11.25.3199.","journal-title":"Hum Mol Genet"},{"issue":"9","key":"795_CR25","doi-asserted-by":"publisher","first-page":"1396","DOI":"10.3390\/life12091396","volume":"12","author":"M Andjelkovic","year":"2022","unstructured":"Andjelkovic M, Skakic A, Urin M, et al. 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. https:\/\/doi.org\/10.3390\/life12091396.","journal-title":"Life"},{"issue":"1","key":"795_CR26","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1186\/s13073-022-01120-z","volume":"14","author":"C Li","year":"2022","unstructured":"Li C, Zhi D, Wang K, et al. MetaRNN: differentiating rare pathogenic and rare benign missense SNVs and InDels using deep learning. Genome Med. 2022;14(1):115. https:\/\/doi.org\/10.1186\/s13073-022-01120-z.","journal-title":"Genome Med."},{"key":"795_CR27","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1002\/jmd2.12200","volume":"59","author":"R Halligan","year":"2021","unstructured":"Halligan R, White FJ, Schwahn B, et al. The natural history of glycogen storage disease type Ib in England: a multisite survey. JIMD Reports. 2021;59:52\u20139.","journal-title":"JIMD Reports"},{"key":"795_CR28","doi-asserted-by":"publisher","first-page":"261","DOI":"10.3343\/alm.2017.37.3.261","volume":"37","author":"R Choi","year":"2017","unstructured":"Choi R, Park HD, Ko JM, et al. Novel SLC37A4 mutations in Korean patients with glycogen storage disease 1b. Ann Lab Med. 2017;37:261\u20136. https:\/\/doi.org\/10.3343\/alm.2017.37.3.261.","journal-title":"Ann Lab Med"},{"issue":"7809","key":"795_CR29","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434\u201343. https:\/\/doi.org\/10.1038\/s41586-020-2308-7. (Erratum in: Nature. 2021;597(7874):E3-E4).","journal-title":"Nature"},{"key":"795_CR30","doi-asserted-by":"publisher","DOI":"10.1036\/ommbid.380","volume-title":"The online metabolic and molecular bases of inherited disease","author":"Y Chen","year":"2019","unstructured":"Chen Y, Kishnani PS, Koeberl D, et al. Glycogen storage diseases. In: Valle DL, Antonarakis S, Ballabio A, et al., editors. The online metabolic and molecular bases of inherited disease. New York: McGraw-Hill Education; 2019. https:\/\/doi.org\/10.1036\/ommbid.380."},{"issue":"6","key":"795_CR31","doi-asserted-by":"publisher","first-page":"122","DOI":"10.3389\/fchem.2018.00122","volume":"17","author":"AR Cappello","year":"2018","unstructured":"Cappello AR, Curcio R, Lappano R, Maggiolini M, Dolce V. The physiopathological role of the exchangers belonging to the SLC37 family. Front Chem. 2018;17(6):122. https:\/\/doi.org\/10.3389\/fchem.2018.00122.","journal-title":"Front Chem"},{"issue":"8","key":"795_CR32","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1007\/s00431-005-1657-4","volume":"164","author":"D Melis","year":"2005","unstructured":"Melis D, Fulceri R, Parenti G, et al. Genotype\/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. Eur J Pediatr. 2005;164(8):501\u20138. https:\/\/doi.org\/10.1007\/s00431-005-1657-4.","journal-title":"Eur J Pediatr"},{"issue":"3","key":"795_CR33","doi-asserted-by":"publisher","first-page":"207","DOI":"10.5114\/pedm.2022.116115","volume":"28","author":"M Kaczor","year":"2022","unstructured":"Kaczor M, Wes\u00f3\u0142-Kucharska D, Greczan M, et al. Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland. Pediatr Endocrinol Diabetes Metab. 2022;28(3):207\u201312. https:\/\/doi.org\/10.5114\/pedm.2022.116115.","journal-title":"Pediatr Endocrinol Diabetes Metab"},{"key":"795_CR34","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1016\/j.jpeds.2006.11.056","volume":"150","author":"D Melis","year":"2007","unstructured":"Melis D, Pivonello R, Parenti G, et al. Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I. J Pediatr. 2007;150:300\u20135. https:\/\/doi.org\/10.1016\/j.jpeds.2006.11.056.","journal-title":"J Pediatr"},{"issue":"10","key":"795_CR35","doi-asserted-by":"publisher","first-page":"3803","DOI":"10.4049\/jimmunol.1601946","volume":"198","author":"D Melis","year":"2017","unstructured":"Melis D, Carbone F, Minopoli G, et al. Cutting edge: increased autoimmunity risk in glycogen storage disease type 1b is associated with a reduced engagement of glycolysis in T cells and an impaired regulatory T cell function. J Immunol. 2017;198(10):3803\u20138. https:\/\/doi.org\/10.4049\/jimmunol.1601946.","journal-title":"J Immunol"},{"issue":"2","key":"795_CR36","doi-asserted-by":"publisher","DOI":"10.1001\/jamanetworkopen.2024.61888","volume":"8","author":"Y Xia","year":"2025","unstructured":"Xia Y, Sun Y, Du T, Sun C, et al. Genetic variants and clinical features of patients with glycogen storage disease type Ib. JAMA Netw Open. 2025;8(2): e2461888.","journal-title":"JAMA Netw Open"},{"issue":"Suppl 1","key":"795_CR37","doi-asserted-by":"publisher","first-page":"S88","DOI":"10.1007\/s00431-002-1011-z","volume":"161","author":"BK Dieckgraefe","year":"2002","unstructured":"Dieckgraefe BK, Korzenik JR, Husain A, Dieruf L. Association of glycogen storage disease 1b and Crohn disease: results of a North American survey. Eur J Pediatr. 2002;161(Suppl 1):S88-92. https:\/\/doi.org\/10.1007\/s00431-002-1011-z.","journal-title":"Eur J Pediatr"},{"key":"795_CR38","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1016\/j.dld.2016.02.020","volume":"48","author":"BB Rao","year":"2016","unstructured":"Rao BB, Koutroubakis IE, Ramos Rivers C, et al. Correlation of anemia status with worsening bowel damage as measured by L\u00e9mann Index in patients with Crohn\u2019s disease. Dig Liver Dis. 2016;48:626\u201331. https:\/\/doi.org\/10.1016\/j.dld.2016.02.020.","journal-title":"Dig Liver Dis"},{"issue":"Suppl 7A","key":"795_CR39","doi-asserted-by":"publisher","first-page":"S44","DOI":"10.1016\/j.amjmed.2003","volume":"116","author":"A Wilson","year":"2004","unstructured":"Wilson A, Reyes E, Ofman J. Prevalence and outcomes of anemia in inflammatory bowel disease: a systematic review of the literature. Am J Med. 2004;116(Suppl 7A):S44\u20139. https:\/\/doi.org\/10.1016\/j.amjmed.2003.","journal-title":"Am J Med"},{"issue":"1","key":"795_CR40","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1186\/s13023-024-03137-6","volume":"19","author":"YX Shao","year":"2024","unstructured":"Shao YX, Liang CL, Su YY, et al. Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study. Orphanet J Rare Dis. 2024;19(1):155. https:\/\/doi.org\/10.1186\/s13023-024-03137-6.","journal-title":"Orphanet J Rare Dis"},{"key":"795_CR41","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2024.108144","volume":"141","author":"SC Gr\u00fcnert","year":"2024","unstructured":"Gr\u00fcnert SC, Derks TGJ, Mundy H, et al. Treatment recommendations for glycogen storage disease type IB associated neutropenia and neutrophil dysfunction with empagliflozin: consensus from an international workshop. Mol Genet Metab. 2024;141: 108144. https:\/\/doi.org\/10.1016\/j.ymgme.2024.108144.","journal-title":"Mol Genet Metab"},{"key":"795_CR42","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1177\/17562848231202138","volume":"16","author":"M Calia","year":"2023","unstructured":"Calia M, Arosio AML, Crescitelli V, et al. Crohn-like disease long remission in a pediatric patient with glycogen storage disease type Ib treated with empagliflozin: a case report. Ther Adv Gastroenterol. 2023;16:1\u20137. https:\/\/doi.org\/10.1177\/17562848231202138.","journal-title":"Ther Adv Gastroenterol"},{"issue":"15","key":"795_CR43","doi-asserted-by":"publisher","first-page":"1365700","DOI":"10.3389\/fendo.2024.1365700","volume":"11","author":"A Klinc","year":"2024","unstructured":"Klinc A, Groselj U, Mlinaric M, et al. Case report: the success of empagliflozin therapy for glycogen storage disease type 1b. Front Endocrinol (Lausanne). 2024;11(15):1365700. https:\/\/doi.org\/10.3389\/fendo.2024.1365700.","journal-title":"Front Endocrinol (Lausanne)."},{"key":"795_CR44","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1002\/jmd2.12364","volume":"64","author":"SC Gr\u00fcnert","year":"2023","unstructured":"Gr\u00fcnert SC, Venema A, LaFreniere J, et al. Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: an international questionnaire study. JIMD Reports. 2023;64:252\u20138. https:\/\/doi.org\/10.1002\/jmd2.12364.","journal-title":"JIMD Reports."}],"container-title":["Molecular Diagnosis &amp; Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40291-025-00795-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s40291-025-00795-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40291-025-00795-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T20:03:07Z","timestamp":1757966587000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s40291-025-00795-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,19]]},"references-count":44,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["795"],"URL":"https:\/\/doi.org\/10.1007\/s40291-025-00795-5","relation":{},"ISSN":["1177-1062","1179-2000"],"issn-type":[{"value":"1177-1062","type":"print"},{"value":"1179-2000","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,19]]},"assertion":[{"value":"29 May 2025","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 June 2025","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This work was supported by the Science Fund of the Republic of Serbia, Prisma program, Grant Number 6999 and Ministry of Science, Technological Development and Innovation of the Republic of Serbia [Number: 451-03-136\/2025-03\/200042].","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Funding"}},{"value":"The authors MDjM, AS, BK, SS, IK, SP, MS declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"This study has been approved by the Ethics Approval Committee of the Mother and Child Health Care Institute of Serbia \u201cDr Vukan Cupic\u201d in Belgrade, Serbia (8\/2025 and 31\/2020).","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"The study was performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments. Informed consent was obtained from all individual participants included in the study.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human Ethics and Consent to Participate"}},{"value":"Raw genetic data are generated and stored at Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, and are available on reasonable request.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Data Availability"}},{"value":"MDj conceived the study, collected all data, performed analysis, wrote the paper; AS performed the genetic analysis and wrote the paper; SS prepared all figures; BK and IK collected the patients\u2019 phenotype data; SP reviewed the paper; MS wrote the paper.","order":7,"name":"Ethics","group":{"name":"EthicsHeading","label":"Authors\u2019 Contributions"}}]}}