{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:10:17Z","timestamp":1790698217623,"version":"4.1.0"},"reference-count":59,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/501100005366","name":"University of Oslo","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005366","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Gastroenterol"],"DOI":"10.1186\/s12876-025-04439-0","type":"journal-article","created":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T10:29:01Z","timestamp":1763548141000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Gastrointestinal symptoms in adults with Fabry disease and their associations with physical and mental health"],"prefix":"10.1186","volume":"25","author":[{"given":"Mina Susanne","family":"Weedon-Fekj\u00e6r","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hege Kampen","family":"Pihlstr\u00f8m","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harald","family":"Weedon-Fekj\u00e6r","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgitte","family":"Berentsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan Gunnar","family":"Hatlebakk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgitte","family":"Bjerkely","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga Karin","family":"Solberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ketil Riddervold","family":"Heimdal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"\u00d8rstavik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trond G.","family":"Jenssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Solrun","family":"Sigurdardottir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,11,19]]},"reference":[{"issue":"9647","key":"4439_CR1","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","volume":"372","author":"YA Zarate","year":"2008","unstructured":"Zarate YA, Hopkin RJ. Fabry\u2019s disease. Lancet. 2008;372(9647):1427\u201335.","journal-title":"Lancet"},{"issue":"3","key":"4439_CR2","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1001\/jama.281.3.249","volume":"281","author":"PJ Meikle","year":"1999","unstructured":"Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999;281(3):249\u201354.","journal-title":"JAMA"},{"issue":"4","key":"4439_CR3","doi-asserted-by":"publisher","first-page":"626","DOI":"10.1177\/1756283X16642936","volume":"9","author":"C Zar-Kessler","year":"2016","unstructured":"Zar-Kessler C, Karaa A, Sims KB, Clarke V, Kuo B. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis. Ther Adv Gastroenterol. 2016;9(4):626\u201334.","journal-title":"Ther Adv Gastroenterol"},{"issue":"3","key":"4439_CR4","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1111\/j.1365-2362.2004.01309.x","volume":"34","author":"A Mehta","year":"2004","unstructured":"Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry outcome survey. Eur J Clin Invest. 2004;34(3):236\u201342.","journal-title":"Eur J Clin Invest"},{"issue":"5","key":"4439_CR5","doi-asserted-by":"publisher","first-page":"1631","DOI":"10.1681\/ASN.2016090964","volume":"28","author":"M Arends","year":"2017","unstructured":"Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, et al. Characterization of classical and nonclassical Fabry disease: a multicenter study. J Am Soc Nephrol. 2017;28(5):1631\u201341.","journal-title":"J Am Soc Nephrol"},{"issue":"12","key":"4439_CR6","doi-asserted-by":"publisher","first-page":"1447","DOI":"10.1016\/j.cgh.2007.08.012","volume":"5","author":"B Hoffmann","year":"2007","unstructured":"Hoffmann B, Schwarz M, Mehta A, Keshav S. Fabry outcome survey European I: gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol. 2007;5(12):1447\u201353.","journal-title":"Clin Gastroenterol Hepatol"},{"issue":"11","key":"4439_CR7","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1007\/s00431-003-1299-3","volume":"162","author":"M Ries","year":"2003","unstructured":"Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I, et al. The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr. 2003;162(11):767\u201372.","journal-title":"Eur J Pediatr"},{"key":"4439_CR8","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2377-11-61","volume":"11","author":"AP Burlina","year":"2011","unstructured":"Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C, et al. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol. 2011;11:61.","journal-title":"BMC Neurol"},{"key":"4439_CR9","first-page":"45","volume":"38","author":"WR Wilcox","year":"2018","unstructured":"Wilcox WR, Feldt-Rasmussen U, Martins AM, Ortiz A, Lemay RM, Jovanovic A, Germain DP, Varas C, Nicholls K, Weidemann F, et al. Improvement of Fabry disease-related Gastrointestinal symptoms in a significant proportion of female patients treated with agalsidase beta: data from the Fabry registry. JIMD Rep. 2018;38:45\u201351.","journal-title":"JIMD Rep"},{"key":"4439_CR10","volume":"25","author":"RJ Hopkin","year":"2020","unstructured":"Hopkin RJ, Feldt-Rasmussen U, Germain DP, Jovanovic A, Martins AM, Nicholls K, et al. Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: a Fabry registry analysis stratified by phenotype. Mol Genet Metab Rep. 2020;25:100670.","journal-title":"Mol Genet Metab Rep"},{"key":"4439_CR11","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/9712831","volume":"2016","author":"L Pensabene","year":"2016","unstructured":"Pensabene L, Sestito S, Nicoletti A, Graziano F, Strisciuglio P, Concolino D. Gastrointestinal symptoms of patients with Fabry disease. Gastroenterol Res Pract. 2016;2016:9712831.","journal-title":"Gastroenterol Res Pract"},{"issue":"10","key":"4439_CR12","doi-asserted-by":"publisher","first-page":"2983","DOI":"10.1007\/s11136-021-02847-9","volume":"30","author":"AL Shields","year":"2021","unstructured":"Shields AL, Lamoureux RE, Taylor F, Barth JA, Mulberg AE, Kessler V, et al. FABry disease Patient-Reported Outcome-GastroIntestinal (FABPRO-GI): a new Fabry disease-specific gastrointestinal outcomes instrument. Qual Life Res. 2021;30(10):2983\u201394.","journal-title":"Qual Life Res"},{"issue":"10","key":"4439_CR13","doi-asserted-by":"publisher","first-page":"908","DOI":"10.1016\/S2468-1253(20)30217-X","volume":"5","author":"P Oka","year":"2020","unstructured":"Oka P, Parr H, Barberio B, Black CJ, Savarino EV, Ford AC. Global prevalence of irritable bowel syndrome according to Rome III or IV criteria: a systematic review and meta-analysis. Lancet Gastroenterol Hepatol. 2020;5(10):908\u201317.","journal-title":"Lancet Gastroenterol Hepatol"},{"issue":"10","key":"4439_CR14","doi-asserted-by":"publisher","first-page":"1561","DOI":"10.1111\/nmo.12856","volume":"28","author":"KA Wensaas","year":"2016","unstructured":"Wensaas KA, Hanevik K, Hausken T, Eide GE, Langeland N, Morch K, et al. Postinfectious and sporadic functional gastrointestinal disorders have different prevalences and rates of overlap: results from a controlled cohort study 3 years after acute giardiasis. Neurogastroenterol Motil. 2016;28(10):1561\u20139.","journal-title":"Neurogastroenterol Motil"},{"issue":"2","key":"4439_CR15","doi-asserted-by":"publisher","first-page":"384","DOI":"10.3748\/wjg.v20.i2.384","volume":"20","author":"M El-Salhy","year":"2014","unstructured":"El-Salhy M, Gundersen D, Gilja OH, Hatlebakk JG, Hausken T. Is irritable bowel syndrome an organic disorder? World J Gastroenterol. 2014;20(2):384\u2013400.","journal-title":"World J Gastroenterol"},{"issue":"8","key":"4439_CR16","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1038\/s41575-020-0286-8","volume":"17","author":"CJ Black","year":"2020","unstructured":"Black CJ, Ford AC. Global burden of irritable bowel syndrome: trends, predictions and risk factors. Nat Rev Gastroenterol Hepatol. 2020;17(8):473\u201386.","journal-title":"Nat Rev Gastroenterol Hepatol"},{"issue":"5","key":"4439_CR17","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.dld.2018.02.011","volume":"50","author":"MJ Hilz","year":"2018","unstructured":"Hilz MJ, Arbustini E, Dagna L, Gasbarrini A, Goizet C, Lacombe D, et al. Non-specific gastrointestinal features: could it be Fabry disease? Dig Liver Dis. 2018;50(5):429\u201337.","journal-title":"Dig Liver Dis"},{"key":"4439_CR18","doi-asserted-by":"publisher","DOI":"10.3390\/nu17071194","author":"VN Dargenio","year":"2025","unstructured":"Dargenio VN, Natale M, Castellaneta SP, Grasta G, Paulucci L, Dargenio C, et al. Unraveling the hidden burden of gastrointestinal and nutritional challenges in children with Fabry disease: a systematic review with meta-analysis. Nutrients. 2025. https:\/\/doi.org\/10.3390\/nu17071194.","journal-title":"Nutrients"},{"issue":"3","key":"4439_CR19","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1053\/gast.2000.16484","volume":"119","author":"IM Gralnek","year":"2000","unstructured":"Gralnek IM, Hays RD, Kilbourne A, Naliboff B, Mayer EA. The impact of irritable bowel syndrome on health-related quality of life. Gastroenterology. 2000;119(3):654\u201360.","journal-title":"Gastroenterology"},{"issue":"12","key":"4439_CR20","doi-asserted-by":"publisher","DOI":"10.14309\/ctg.0000000000000633","volume":"14","author":"N Bar","year":"2023","unstructured":"Bar N, Karaa A, Kiser K, Kuo B, Zar-Kessler C. Gastrointestinal sensory neuropathy and dysmotility in Fabry disease: presentations and effect on patient\u2019s quality of life. Clin Transl Gastroenterol. 2023;14(12):e00633.","journal-title":"Clin Transl Gastroenterol"},{"issue":"1","key":"4439_CR21","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03412-6","volume":"19","author":"M Morales","year":"2024","unstructured":"Morales M, Cruz J, Brignani E, Acuna L, Lazaro E, Soria C. Quality of life and unmet needs in patients with Fabry disease: a qualitative study. Orphanet J Rare Dis. 2024;19(1):389.","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"4439_CR22","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1016\/j.ymgme.2018.09.007","volume":"126","author":"DP Germain","year":"2019","unstructured":"Germain DP, Arad M, Burlina A, Elliott PM, Falissard B, Feldt-Rasmussen U, et al. The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease - a systematic literature review by a European panel of experts. Mol Genet Metab. 2019;126(3):224\u201335.","journal-title":"Mol Genet Metab"},{"issue":"3","key":"4439_CR23","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1016\/j.ymgme.2018.06.004","volume":"124","author":"C Wanner","year":"2018","unstructured":"Wanner C, Arad M, Baron R, Burlina A, Elliott PM, Feldt-Rasmussen U, et al. European expert consensus statement on therapeutic goals in Fabry disease. Mol Genet Metab. 2018;124(3):189\u2013203.","journal-title":"Mol Genet Metab"},{"issue":"4","key":"4439_CR24","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1136\/jmedgenet-2016-104178","volume":"54","author":"DA Hughes","year":"2017","unstructured":"Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, et al. Oral pharmacological chaperone Migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. J Med Genet. 2017;54(4):288\u201396.","journal-title":"J Med Genet"},{"key":"4439_CR25","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0813-7","author":"R Schiffmann","year":"2018","unstructured":"Schiffmann R, Bichet DG, Jovanovic A, Hughes DA, Giugliani R, Feldt-Rasmussen U, et al. Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. Orphanet J Rare Dis. 2018. https:\/\/doi.org\/10.1186\/s13023-018-0813-7.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"4439_CR26","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03503-4","volume":"19","author":"M Lenders","year":"2024","unstructured":"Lenders M, Nowak A, Cybulla M, Kaufeld J, Kohn AF, Muschol NM, et al. Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease. Orphanet J Rare Dis. 2024;19(1):490.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"4439_CR27","first-page":"56","volume":"62","author":"HK Pihlstrom","year":"2021","unstructured":"Pihlstrom HK, Weedon-Fekjaer MS, Bjerkely BL, von der Lippe C, Orstavik K, Mathisen P, Heimdal K, Jenssen TG, Dahle DO, Solberg OK, et al. Health-related quality of life in Norwegian adults with Fabry disease: disease severity, pain, fatigue and psychological distress. JIMD Rep. 2021;62(1):56\u201369.","journal-title":"JIMD Rep"},{"issue":"1","key":"4439_CR28","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1186\/s13023-021-02066-y","volume":"16","author":"S Sigurdardottir","year":"2021","unstructured":"Sigurdardottir S, Bjerkely B, Jenssen TG, Mathisen P, von der Lippe C, Orstavik K, Heimdal K, Dahle DO, Weedon-Fekjaer MS, Solberg O, et al. The impact of demographic and clinical characteristics on the trajectories of health-related quality of life among patients with Fabry disease. Orphanet J Rare Dis. 2021;16(1):427.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"4439_CR29","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1111\/j.1443-9573.2006.00265.x","volume":"7","author":"DA Drossman","year":"2006","unstructured":"Drossman DA. Rome III: the new criteria. Chin J Dig Dis. 2006;7(4):181\u20135.","journal-title":"Chin J Dig Dis"},{"issue":"2","key":"4439_CR30","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1046\/j.1365-2036.1997.142318000.x","volume":"11","author":"CY Francis","year":"1997","unstructured":"Francis CY, Morris J, Whorwell PJ. The irritable bowel severity scoring system: a simple method of monitoring irritable bowel syndrome and its progress. Aliment Pharmacol Ther. 1997;11(2):395\u2013402.","journal-title":"Aliment Pharmacol Ther"},{"issue":"3","key":"4439_CR31","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1016\/j.ymgme.2009.10.178","volume":"99","author":"EH Giannini","year":"2010","unstructured":"Giannini EH, Mehta AB, Hilz MJ, Beck M, Bichet DG, Brady RO, et al. A validated disease severity scoring system for Fabry disease. Mol Genet Metab. 2010;99(3):283\u201390.","journal-title":"Mol Genet Metab"},{"issue":"5","key":"4439_CR32","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1016\/S0885-3924(02)00526-2","volume":"24","author":"P Klepstad","year":"2002","unstructured":"Klepstad P, Loge JH, Borchgrevink PC, Mendoza TR, Cleeland CS, Kaasa S. The Norwegian brief pain inventory questionnaire: translation and validation in cancer pain patients. J Pain Symptom Manage. 2002;24(5):517\u201325.","journal-title":"J Pain Symptom Manage"},{"issue":"2","key":"4439_CR33","first-page":"129","volume":"23","author":"CS Cleeland","year":"1994","unstructured":"Cleeland CS, Ryan KM. Pain assessment: global use of the brief pain inventory. Ann Acad Med Singap. 1994;23(2):129\u201338.","journal-title":"Ann Acad Med Singap"},{"issue":"5","key":"4439_CR34","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1097\/00002508-200409000-00005","volume":"20","author":"S Keller","year":"2004","unstructured":"Keller S, Bann CM, Dodd SL, Schein J, Mendoza TR, Cleeland CS. Validity of the brief pain inventory for use in documenting the outcomes of patients with noncancer pain. Clin J Pain. 2004;20(5):309\u201318.","journal-title":"Clin J Pain"},{"issue":"4 Suppl","key":"4439_CR35","first-page":"AS264","volume":"33","author":"JE Ware Jr","year":"1995","unstructured":"Ware JE Jr., Kosinski M, Bayliss MS, McHorney CA, Rogers WH, Raczek A. Comparison of methods for the scoring and statistical analysis of SF-36 health profile and summary measures: summary of results from the medical outcomes study. Med Care. 1995;33(4 Suppl):AS264\u2013279.","journal-title":"Med Care"},{"issue":"6","key":"4439_CR36","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1111\/j.1600-0447.1983.tb09716.x","volume":"67","author":"AS Zigmond","year":"1983","unstructured":"Zigmond AS, Snaith RP. The hospital anxiety and depression scale. Acta Psychiatr Scand. 1983;67(6):361\u201370.","journal-title":"Acta Psychiatr Scand"},{"issue":"6631","key":"4439_CR37","doi-asserted-by":"publisher","first-page":"1238","DOI":"10.1136\/bmj.296.6631.1238","volume":"296","author":"DG Altman","year":"1988","unstructured":"Altman DG, Gardner MJ. Calculating confidence intervals for regression and correlation. Br Med J (Clin Res Ed). 1988;296(6631):1238\u201342.","journal-title":"Br Med J (Clin Res Ed)"},{"issue":"1","key":"4439_CR38","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01894-2","volume":"16","author":"A Hamed","year":"2021","unstructured":"Hamed A, DasMahapatra P, Lyn N, Gwaltney C, Hopkin RJ. Development of the Fabry disease patient-reported outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry disease. Orphanet J Rare Dis. 2021;16(1):285.","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"4439_CR39","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1080\/00365521.2022.2028005","volume":"57","author":"SG Johansen","year":"2022","unstructured":"Johansen SG, Ness-Jensen E. The changes in prevalence and risk of irritable bowel syndrome over time in a population-based cohort, the HUNT study, Norway. Scand J Gastroenterol. 2022;57(6):665\u201371.","journal-title":"Scand J Gastroenterol"},{"issue":"3","key":"4439_CR40","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1053\/j.gastro.2023.05.049","volume":"165","author":"S Ballou","year":"2023","unstructured":"Ballou S, Singh P, Nee J, Rangan V, Iturrino J, Geeganage G, L\u00f6we B, Bangdiwala SI, Palsson OS, Sperber AD, et al. Prevalence and associated factors of bloating: results from the Rome foundation global epidemiology study. Gastroenterology. 2023;165(3):647\u2013e655644.","journal-title":"Gastroenterology"},{"key":"4439_CR41","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25105158","author":"G Duro","year":"2024","unstructured":"Duro G, Anania M, Zizzo C, Francofonte D, Giacalone I, D\u2019Errico A, et al. Diagnosis of Fabry disease using alpha-galactosidase A activity or lysoGb3 in blood fails to identify up to two thirds of female patients. Int J Mol Sci. 2024. https:\/\/doi.org\/10.3390\/ijms25105158.","journal-title":"Int J Mol Sci"},{"issue":"4","key":"4439_CR42","doi-asserted-by":"publisher","first-page":"544","DOI":"10.5056\/jnm18082","volume":"24","author":"YS Kim","year":"2018","unstructured":"Kim YS, Kim N. Sex-gender differences in irritable bowel syndrome. J Neurogastroenterol Motil. 2018;24(4):544\u201358.","journal-title":"J Neurogastroenterol Motil"},{"issue":"1","key":"4439_CR43","doi-asserted-by":"publisher","first-page":"98","DOI":"10.15403\/jgld-3855","volume":"31","author":"D Radulescu","year":"2022","unstructured":"Radulescu D, Crisan D, Militaru V, Buzdugan E, Stoicescu L, Grosu A, et al. Gastrointestinal manifestations and treatment options in Fabry disease patients. A systematic review. J Gastrointestin Liver Dis. 2022;31(1):98\u2013106.","journal-title":"J Gastrointestin Liver Dis"},{"issue":"3","key":"4439_CR44","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1016\/j.bbi.2010.11.010","volume":"25","author":"S Elsenbruch","year":"2011","unstructured":"Elsenbruch S. Abdominal pain in irritable bowel syndrome: a review of putative psychological, neural and neuro-immune mechanisms. Brain Behav Immun. 2011;25(3):386\u201394.","journal-title":"Brain Behav Immun"},{"issue":"10","key":"4439_CR45","doi-asserted-by":"publisher","first-page":"1067","DOI":"10.1097\/00042737-200410000-00020","volume":"16","author":"B Hoffmann","year":"2004","unstructured":"Hoffmann B, Reinhardt D, Koletzko B. Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease. Eur J Gastroenterol Hepatol. 2004;16(10):1067\u20139.","journal-title":"Eur J Gastroenterol Hepatol"},{"issue":"10","key":"4439_CR46","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1097\/AJP.0000000000000041","volume":"30","author":"N Uceyler","year":"2014","unstructured":"Uceyler N, Ganendiran S, Kramer D, Sommer C. Characterization of pain in Fabry disease. Clin J Pain. 2014;30(10):915\u201320.","journal-title":"Clin J Pain"},{"issue":"3","key":"4439_CR47","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/j.ymgme.2011.03.022","volume":"103","author":"DA Hughes","year":"2011","unstructured":"Hughes DA, Barba Romero M, Hollak CE, Giugliani R, Deegan PB. Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS\u2013the Fabry outcome survey. Mol Genet Metab. 2011;103(3):207\u201314.","journal-title":"Mol Genet Metab"},{"key":"4439_CR48","doi-asserted-by":"publisher","DOI":"10.3390\/nu15030658","author":"G Gugelmo","year":"2023","unstructured":"Gugelmo G, Vitturi N, Francini-Pesenti F, Fasan I, Lenzini L, Valentini R, et al. Gastrointestinal manifestations and low-FODMAP protocol in a cohort of Fabry disease adult patients. Nutrients. 2023. https:\/\/doi.org\/10.3390\/nu15030658.","journal-title":"Nutrients"},{"issue":"2","key":"4439_CR49","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1007\/s10545-007-0521-2","volume":"30","author":"CM Eng","year":"2007","unstructured":"Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007;30(2):184\u201392.","journal-title":"J Inherit Metab Dis"},{"issue":"455","key":"4439_CR50","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1111\/j.1651-2227.2007.00216.x","volume":"96","author":"B Hoffmann","year":"2007","unstructured":"Hoffmann B, Keshav S. Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment. Acta Paediatr. 2007;96(455):84\u20136.","journal-title":"Acta Paediatr"},{"issue":"18","key":"4439_CR51","doi-asserted-by":"publisher","first-page":"2219","DOI":"10.3748\/wjg.v27.i18.2219","volume":"27","author":"M El-Salhy","year":"2021","unstructured":"El-Salhy M, Casen C, Valeur J, Hausken T, Hatlebakk JG. Responses to faecal microbiota transplantation in female and male patients with irritable bowel syndrome. World J Gastroenterol. 2021;27(18):2219\u201337.","journal-title":"World J Gastroenterol"},{"issue":"2","key":"4439_CR52","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1111\/cge.13546","volume":"96","author":"DP Germain","year":"2019","unstructured":"Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019;96(2):107\u201317.","journal-title":"Clin Genet"},{"key":"4439_CR53","doi-asserted-by":"publisher","DOI":"10.3390\/jcm14134400","author":"SY Lee","year":"2025","unstructured":"Lee SY, Kim IY, Ahn SH, Kim SJ, Lee HM, Lee JE, et al. Multidisciplinary care model as a center of excellence for Fabry disease: a practical guide to diagnosis and management by clinical specialty in South Korea. J Clin Med. 2025. https:\/\/doi.org\/10.3390\/jcm14134400.","journal-title":"J Clin Med"},{"issue":"9","key":"4439_CR54","first-page":"755","volume":"19","author":"D Nellesen","year":"2013","unstructured":"Nellesen D, Yee K, Chawla A, Lewis BE, Carson RT. A systematic review of the economic and humanistic burden of illness in irritable bowel syndrome and chronic constipation. J Manag Care Pharm. 2013;19(9):755\u201364.","journal-title":"J Manag Care Pharm"},{"key":"4439_CR55","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpsychores.2022.110809","volume":"159","author":"IA Trindade","year":"2022","unstructured":"Trindade IA, Melchior C, Tornblom H, Simren M. Quality of life in irritable bowel syndrome: exploring mediating factors through structural equation modelling. J Psychosom Res. 2022;159:110809.","journal-title":"J Psychosom Res"},{"key":"4439_CR56","doi-asserted-by":"publisher","DOI":"10.1016\/j.nut.2019.110664","volume":"72","author":"F Francini-Pesenti","year":"2020","unstructured":"Francini-Pesenti F, Ravarotto V, Bertoldi G, Spinella P, Calo LA. Could nutritional therapy take Us further in our approaches to Fabry disease? Nutrition. 2020;72:110664.","journal-title":"Nutrition"},{"issue":"1","key":"4439_CR57","doi-asserted-by":"publisher","DOI":"10.1080\/19490976.2022.2027852","volume":"14","author":"M Lenders","year":"2022","unstructured":"Lenders M, Brand E. Fabry disease - a multisystemic disease with gastrointestinal manifestations. Gut Microbes. 2022;14(1):2027852.","journal-title":"Gut Microbes"},{"issue":"9","key":"4439_CR58","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1038\/s41575-023-00794-z","volume":"20","author":"HM Staudacher","year":"2023","unstructured":"Staudacher HM, Black CJ, Teasdale SB, Mikocka-Walus A, Keefer L. Irritable bowel syndrome and mental health comorbidity - approach to multidisciplinary management. Nat Rev Gastroenterol Hepatol. 2023;20(9):582\u201396.","journal-title":"Nat Rev Gastroenterol Hepatol"},{"key":"4439_CR59","doi-asserted-by":"publisher","DOI":"10.3390\/nu16071061","author":"G Muscogiuri","year":"2024","unstructured":"Muscogiuri G, De Marco O, Di Lorenzo T, Amicone M, Capuano I, Riccio E, et al. Diet and physical activity in Fabry disease: a narrative review. Nutrients. 2024. https:\/\/doi.org\/10.3390\/nu16071061.","journal-title":"Nutrients"}],"container-title":["BMC Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12876-025-04439-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12876-025-04439-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12876-025-04439-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T11:03:11Z","timestamp":1763550191000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcgastroenterol.biomedcentral.com\/articles\/10.1186\/s12876-025-04439-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,19]]},"references-count":59,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["4439"],"URL":"https:\/\/doi.org\/10.1186\/s12876-025-04439-0","relation":{},"ISSN":["1471-230X"],"issn-type":[{"value":"1471-230X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,19]]},"assertion":[{"value":"19 May 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 October 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 November 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All protocols and methods were approved by the Norwegian Regional Committee for Medical Research Ethics in South-Eastern Norway (permit no. 31513) and the Institutional Data Protection Authority (number 20\/01134). The study was conducted in accordance with relevant ethical standards and with the Declaration of Helsinki. Informed consent was obtained from all study participants.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"SS has received speaker fees from Sanofi. Other authors have no competing interests to declare.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"819"}}