{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T01:02:58Z","timestamp":1767142978850,"version":"build-2238731810"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2014,6,10]],"date-time":"2014-06-10T00:00:00Z","timestamp":1402358400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2014,6,10]],"date-time":"2014-06-10T00:00:00Z","timestamp":1402358400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fanconi-Bickel Syndrome (FBS) is a rare autosomal recessive disorder of carbohydrate metabolism. The defect in the GLUT 2 receptors in the hepatocytes, pancreas and renal tubules leads to symptoms secondary to glycogen storage, glucose metabolism and renal tubular dysfunction. Derangement in glucose metabolism is classical with fasting hypoglycemia and post-prandial hyperglycemia. The authors report a 4-year-old boy who presented with failure to thrive, motor delay, protuberant abdomen and was noted to have huge hepatomegaly with glycogen deposition in liver, and renal tubular acidosis. Gene sequencing revealed homozygous mutation, c.1330T &gt; C in\n                    <jats:italic>SLC2A2<\/jats:italic>\n                    gene, thus confirming the diagnosis of FBS. Only three mutations have been reported from India so far. The primary reason for referral to authors\u2019 hospital was for liver transplantation, but an accurate diagnosis led to avoidance of the major surgery and streamlining of treatment with clinical benefit to the child and family.\n                  <\/jats:p>","DOI":"10.1007\/s12098-014-1487-3","type":"journal-article","created":{"date-parts":[[2014,6,10]],"date-time":"2014-06-10T13:33:35Z","timestamp":1402407215000},"page":"1237-1239","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene"],"prefix":"10.1007","volume":"81","author":[{"given":"Mohit","family":"Kehar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunita","family":"Bijarnia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jayne","family":"Houghton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renu","family":"Saxena","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. C.","family":"Verma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nishant","family":"Wadhwa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,6,10]]},"reference":[{"key":"1487_CR1","first-page":"359","volume":"4","author":"G Fanconi","year":"1949","unstructured":"Fanconi G, Bickel H. Die chronische Aminoaciduria (Aminosaeurediabetes oder nephrotisch-glukosurischer Zwergwuchs) bei der Glykogenose und der Cystinkrankheit. Helv Paediat Acta. 1949;4:359\u201396.","journal-title":"Helv Paediat Acta"},{"key":"1487_CR2","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1038\/ng1197-324","volume":"17","author":"R Santer","year":"1997","unstructured":"Santer R, Schneppenheim R, Dombrowski A, G\u00f6tze H, Steinmann B, Schaub J. Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet. 1997;17:324\u20136.","journal-title":"Nat Genet"},{"key":"1487_CR3","doi-asserted-by":"publisher","first-page":"213","DOI":"10.2174\/1566524024605743","volume":"2","author":"R Santer","year":"2002","unstructured":"Santer R, Steinmann B, Schaub J. Fanconi-Bickel syndrome\u2013a congenital defect of facilitative glucose transport. Curr Mol Med. 2002;2:213\u201327.","journal-title":"Curr Mol Med"},{"key":"1487_CR4","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1007\/BF00711753","volume":"18","author":"PJ Lee","year":"1995","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.","journal-title":"J Inherit Metab Dis"},{"key":"1487_CR5","first-page":"223","volume":"44","author":"S Karande","year":"2007","unstructured":"Karande S, Kumbhare N, Kulkarni M. Fanconi\u2013Bickel syndrome. Indian Pediatr. 2007;44:223\u20135.","journal-title":"Indian Pediatr"},{"key":"1487_CR6","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1007\/s12098-011-0373-5","volume":"79","author":"K Mohandas Nair","year":"2012","unstructured":"Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S. Fanconi-Bickel syndrome. Indian J Pediatr. 2012;79:112\u20134.","journal-title":"Indian J Pediatr"},{"key":"1487_CR7","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1007\/s10157-011-0456-7","volume":"15","author":"A Gopalakrishnan","year":"2011","unstructured":"Gopalakrishnan A, Kumar M, Krishnamurthy S, Sakamoto O, Srinivasan S. Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. Clin Exp Nephrol. 2011;15:745\u20138.","journal-title":"Clin Exp Nephrol"},{"key":"1487_CR8","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1007\/s12098-011-0568-9","volume":"79","author":"AV Ekbote","year":"2012","unstructured":"Ekbote AV, Mandal K, Agarwal I, Sinha R, Danda S. Fanconi- Bickel Syndrome: mutation in an Indian patient. Indian J Pediatr. 2012;79:810\u20132.","journal-title":"Indian J Pediatr"}],"updated-by":[{"DOI":"10.1007\/s12098-016-2197-9","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2016,8,1]],"date-time":"2016-08-01T00:00:00Z","timestamp":1470009600000}}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-014-1487-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12098-014-1487-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-014-1487-3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-014-1487-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T23:57:51Z","timestamp":1630540671000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12098-014-1487-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,10]]},"references-count":8,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["1487"],"URL":"https:\/\/doi.org\/10.1007\/s12098-014-1487-3","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,10]]},"assertion":[{"value":"29 November 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 May 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 June 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}