{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T04:01:53Z","timestamp":1774584113718,"version":"3.50.1"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2005,4,1]],"date-time":"2005-04-01T00:00:00Z","timestamp":1112313600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2005,4]]},"DOI":"10.1007\/bf02724013","type":"journal-article","created":{"date-parts":[[2008,2,26]],"date-time":"2008-02-26T04:00:34Z","timestamp":1203998434000},"page":"315-318","source":"Crossref","is-referenced-by-count":19,"title":["Leukodystrophies: Indian scenario"],"prefix":"10.1007","volume":"72","author":[{"given":"B. S.","family":"Singhal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2005,4,1]]},"reference":[{"key":"BF02724013_CR1","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1007\/BF02776436","volume":"51","author":"BA Bharucha","year":"1984","unstructured":"Bharucha BA, Naik G, Savliwala AS, Joshi RM, Kumta NB. Siblings with the Austin variant of metachromatic leukodystrophy multiple sulfatidosis.Indian J Pediatr (India) 1984; 51: 477\u2013480.","journal-title":"Indian J Pediatr (India)"},{"issue":"6","key":"BF02724013_CR2","first-page":"518","volume":"24","author":"GK Nigam","year":"1987","unstructured":"Nigam GK, Anand RK. Metachromatic leukodystrophy.Indian J Pediatr 1987; 24 (6), 518\u2013519.","journal-title":"Indian J Pediatr"},{"issue":"1","key":"BF02724013_CR3","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1111\/j.1600-0404.1989.tb03704.x","volume":"79","author":"PN Jayakumar","year":"1989","unstructured":"Jayakumar PN, Aroor SR, Jha RK, Arya BY. Computed tomography (CT) in late infantile metachromatic leukodystrophy.Acta Neurol Scand 1989; 79 (1): 23\u201326.","journal-title":"Acta Neurol Scand"},{"issue":"6","key":"BF02724013_CR4","first-page":"690","volume":"31","author":"L Pandit","year":"1994","unstructured":"Pandit L, Kapadia R, Kini P, Rao S. Metachromatic leukodystrophy presenting with extrapyramidal disturbances.Indian J Pediatr 1994; 31 (6): 690\u2013694.","journal-title":"Indian J Pediatr"},{"issue":"5\u20136","key":"BF02724013_CR5","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1007\/BF01076957","volume":"12","author":"S Oak","year":"1997","unstructured":"Oak S, Rao S, Karmarkar S, Kulkarni B, Kalgutkar A, Malde Aet al. Papillomatosis of the gallbladder in metachromatic leukodystrophy.Pediatr Surg Int 1997; 12 (5\u20136): 424\u2013425.","journal-title":"Pediatr Surg Int"},{"key":"BF02724013_CR6","first-page":"86","volume":"SS-1","author":"P S Bindu","year":"2004","unstructured":"Bindu P S, Mahadevan Anita, Desai Sunaili, Cristopher Rita, Jayakumar PN. Metachromatic leukodystrophy \u2014 A heterogenous disease with and without aryl sulfatase A deficiency: A cliniopathological reappraisal. Abstract.Indian J Pediatr (Suppl) 2004; SS-1: 86.","journal-title":"Indian J Pediatr"},{"key":"BF02724013_CR7","first-page":"1478","volume":"21","author":"L Farina","year":"2000","unstructured":"Farina L, Bizzi A, Flnocchiaro G, Pareyson D, Sghirlanzon A, Bertagnolio Bet al. MR imaging and proton MR spectroscopy in Adult Krabbe Disease.AJNR 2000; 21: 1478\u201382.","journal-title":"AJNR"},{"key":"BF02724013_CR8","unstructured":"Singhal BS, Gursahani RD, Biniwale AA, Udani VP. Megalencephalic leukodystrophy in India. Abstract. 8th Asian and Oceanian Congress of Neurology, Tokyo, Japan, 1991."},{"key":"BF02724013_CR9","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1002\/ana.410370308","volume":"37","author":"MS Knaap van der","year":"1995","unstructured":"van der Knaap MS, Barth PG, Stroink H, van Nieuwenhuizen O, Arts KM, Hoogenraad Fet al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children.Ann Neurol 1995; 37:324\u2013334.","journal-title":"Ann Neurol"},{"key":"BF02724013_CR10","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/0887-8994(96)00048-3","volume":"14","author":"BS Singhal","year":"1996","unstructured":"Singhal BS, Gursahani RD, Udani VP, Binivale AA. Megalencephalic leukodystrophy in an Asian Indian ethnic group.Pediatr Neurol 1996; 14: 291\u2013296.","journal-title":"Pediatr Neurol"},{"key":"BF02724013_CR11","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/S0387-7604(98)00002-3","volume":"20","author":"M Topcu","year":"1998","unstructured":"Topcu M, Saatci I, Topcuoglu MA, Kose G, Kunak B. Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases.Brain & Development 1998; 20: 142\u2013153.","journal-title":"Brain & Development"},{"key":"BF02724013_CR12","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1177\/088307389601100604","volume":"11","author":"F Goutieres","year":"1996","unstructured":"Goutieres F, Boulloche J, Bourgeois M, Aicardi J. Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases.J Child Neurol 1996; 11:439\u2013444.","journal-title":"J Child Neurol"},{"key":"BF02724013_CR13","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1016\/S0387-7604(98)00024-2","volume":"20","author":"T Koeda","year":"1998","unstructured":"Koeda T, Takeshita K. Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy.Brain & Development 1998; 20: 245\u2013249.","journal-title":"Brain & Development"},{"key":"BF02724013_CR14","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1177\/08830738030180091201","volume":"18","author":"BS Singhal","year":"2003","unstructured":"Singhal BS, Gorospe JR, Naidu S. Megalencephalic leukoencephalopathy with subcortical cysts.J Child Neurol 2003; 18: 646\u2013653.","journal-title":"J Child Neurol"},{"key":"BF02724013_CR15","doi-asserted-by":"publisher","first-page":"733","DOI":"10.1086\/302758","volume":"66","author":"M Tpocu","year":"2000","unstructured":"Tpocu M, Gartioux C, Ribierre F, Yalcinkaya C, Tokus E, Oztekin Net al. Vacuoliting megalencephalic leukoencephalopathy with subcortical cysts, mapped to chromosome 22qtel.Am J Hum Genet 2000; 66: 733\u2013739.","journal-title":"Am J Hum Genet"},{"key":"BF02724013_CR16","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1086\/319519","volume":"68","author":"PAJ Leegwater","year":"2001","unstructured":"Leegwater PAJ, Yuan BQ, van der Steen Jet al. Mutations of MLC1 (KIAA0027) encoding a putative memebrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts.Am J Hum Genet 2001; 68: 831\u2013838.","journal-title":"Am J Hum Genet"},{"key":"BF02724013_CR17","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1007\/s00439-002-0682-x","volume":"110","author":"PAJ Leegwater","year":"2002","unstructured":"Leegwater PAJ, Boor PK, Yuan BQet al. Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts.Hum Genet 2002; 110: 279\u2013283.","journal-title":"Hum Genet"},{"key":"BF02724013_CR18","doi-asserted-by":"publisher","first-page":"878","DOI":"10.1212\/01.WNL.0000115106.88813.5B","volume":"62","author":"JR Gorospe","year":"2004","unstructured":"Gorospe JR, Singhal BS, Kainu T, Wu F, Stephan D, Trent Jet al. Indian Agarwal megalencephalic leukodystrophy with cysts by common MLCI mutation.Neurology 2004; 62: 878\u2013882.","journal-title":"Neurology"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02724013.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF02724013\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02724013","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02724013.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,18]],"date-time":"2019-05-18T22:02:42Z","timestamp":1558216962000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF02724013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,4]]}},"alternative-id":["BF02724013"],"URL":"https:\/\/doi.org\/10.1007\/bf02724013","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4]]}}}