{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T10:05:35Z","timestamp":1750759535200,"version":"3.37.3"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2023,2]]},"DOI":"10.1007\/s12098-022-04372-0","type":"journal-article","created":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T04:31:23Z","timestamp":1667449883000},"page":"178-180","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical Features and Genetic Sequencing of Children with Fanconi\u2013Bickel Syndrome"],"prefix":"10.1007","volume":"90","author":[{"given":"Srinivasavaradan","family":"Govindarajan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8753-1837","authenticated-orcid":false,"given":"Priyanka","family":"Khandelwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shally","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anuja","family":"Agarwala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aditi","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pankaj","family":"Hari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arvind","family":"Bagga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,11,3]]},"reference":[{"key":"4372_CR1","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1007\/s00439-001-0638-6","volume":"110","author":"R Santer","year":"2002","unstructured":"Santer R, Groth S, Kinner M, et al. The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet. 2002;110:21\u20139.","journal-title":"Hum Genet"},{"key":"4372_CR2","doi-asserted-by":"publisher","first-page":"1785","DOI":"10.3390\/genes12111785","volume":"12","author":"SC Gr\u00fcnert","year":"2021","unstructured":"Gr\u00fcnert SC, Schumann A, Baronio F, et al. Evidence for a genotype-phenotype correlation in patients with pathogenic GLUT2 (SLC2A2) variants. Genes (Basel). 2021;12:1785.","journal-title":"Genes (Basel)"},{"key":"4372_CR3","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, 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;17:405\u201324.","journal-title":"Genet Med"},{"key":"4372_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s13730-017-0278-x","volume":"7","author":"P Khandelwal","year":"2018","unstructured":"Khandelwal P, Sinha A, Jain V, Houghton J, Hari P, Bagga A. Fanconi syndrome and neonatal diabetes: phenotypic heterogeneity in patients with GLUT2 defects. CEN Case Rep. 2018;7:1\u20134.","journal-title":"CEN Case Rep"},{"key":"4372_CR5","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1007\/BF00849262","volume":"1","author":"F Manz","year":"1987","unstructured":"Manz F, Bickel H, Brodehl J, et al. Fanconi-Bickel syndrome. Pediatr Nephrol. 1987;1:509\u201318.","journal-title":"Pediatr Nephrol"},{"key":"4372_CR6","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/s13633-020-00091-5","volume":"2020","author":"SA Musa","year":"2020","unstructured":"Musa SA, Ibrahim AA, Hassan SS, et al. Fanconi Bickel syndrome: clinical phenotypes and genetics in a cohort of Sudanese children. Int J Pediatr Endocrinol. 2020;2020:21.","journal-title":"Int J Pediatr Endocrinol"},{"key":"4372_CR7","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1002\/jimd.12203","volume":"43","author":"A Pennisi","year":"2020","unstructured":"Pennisi A, Maranda B, Benoist JF, et al. Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome. J Inherit Metab Dis. 2020;43:540\u20138.","journal-title":"J Inherit Metab Dis"},{"key":"4372_CR8","doi-asserted-by":"publisher","first-page":"434","DOI":"10.24953\/turkjped.2017.04.010","volume":"59","author":"B \u015eeker-Y\u0131lmaz","year":"2017","unstructured":"\u015eeker-Y\u0131lmaz B, K\u00f6r D, Bulut FD, et al. Impaired glucose tolerance in Fanconi-Bickel syndrome: eight patients with two novel mutations. Turk J Pediatr. 2017;59:434\u201341.","journal-title":"Turk J Pediatr"},{"key":"4372_CR9","first-page":"983","volume":"40","author":"OJ Enogieru","year":"2019","unstructured":"Enogieru OJ, Ung PMU, Yee SW, Schlessinger A, Giacomini KM. Functional and structural analysis of rare SLC2A2 variants associated with Fanconi-Bickel syndrome and metabolic traits. Hum Mutat. 2019;40:983\u201395.","journal-title":"Hum Mutat"},{"key":"4372_CR10","doi-asserted-by":"crossref","unstructured":"Lee PJ, Van\u2019t Hoff WG, Leonard JV. Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch. J Inherit Metab Dis. 1995;18:153\u20136.","DOI":"10.1007\/BF00711753"}],"container-title":["Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-022-04372-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12098-022-04372-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-022-04372-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,16]],"date-time":"2023-01-16T10:09:58Z","timestamp":1673863798000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12098-022-04372-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,3]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,2]]}},"alternative-id":["4372"],"URL":"https:\/\/doi.org\/10.1007\/s12098-022-04372-0","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"type":"print","value":"0019-5456"},{"type":"electronic","value":"0973-7693"}],"subject":[],"published":{"date-parts":[[2022,11,3]]},"assertion":[{"value":"2 May 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"31 August 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 November 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}