{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:51:40Z","timestamp":1791805900924,"version":"4.3.4"},"publisher-location":"Cham","reference-count":31,"publisher":"Springer International Publishing","isbn-type":[{"value":"9783319034607","type":"print"},{"value":"9783319034614","type":"electronic"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013]]},"DOI":"10.1007\/8904_2013_244","type":"book-chapter","created":{"date-parts":[[2013,7,12]],"date-time":"2013-07-12T10:50:17Z","timestamp":1373626217000},"page":"51-63","source":"Crossref","is-referenced-by-count":38,"title":["Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility"],"prefix":"10.1007","author":[{"given":"Jayesh","family":"Sheth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehul","family":"Mistri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frenny","family":"Sheth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raju","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashish","family":"Bavdekar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koumudi","family":"Godbole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nidhish","family":"Nanavaty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaitanya","family":"Datar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahesh","family":"Kamate","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nrupesh","family":"Oza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chitra","family":"Ankleshwaria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjeev","family":"Mehta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,7,13]]},"reference":[{"issue":"457","key":"244_CR02441","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1111\/j.1651-2227.2007.00641.x","volume":"97","author":"JM Aerts","year":"2008","unstructured":"Aerts JM, van Breemen MJ, Bussink AP et al (2008) Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. Acta Paediatr Suppl 97(457):7\u201314","journal-title":"Acta Paediatr Suppl"},{"key":"244_CR02442","first-page":"77","volume-title":"Techniques in diagnostic human biochemical genetics: a laboratory manual","author":"PP Dembure","year":"1991","unstructured":"Dembure PP, Roesel AR (1991) Screening for mucopolysaccharidoses by analysis of urinary glycosaminoglycans. In: Hommes FA (ed) Techniques in diagnostic human biochemical genetics: a laboratory manual. Wiley-Liss, New York, pp 77\u201386"},{"issue":"3","key":"244_CR02443","first-page":"307","volume":"37","author":"M Feroze","year":"1994","unstructured":"Feroze M, Arvindan KP, Jose L (1994) Gaucher\u2019s disease among Mappila muslims of Malabar. Indian J Pathol Microbiol 37(3):307\u2013311","journal-title":"Indian J Pathol Microbiol"},{"issue":"3","key":"244_CR02444","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1186\/1479-7364-5-3-156","volume":"5","author":"M Filocamo","year":"2011","unstructured":"Filocamo M, Morrone A (2011) Lysosomal storage disorders: molecular basis and laboratory testing. Hum Genomics 5(3):156\u2013169","journal-title":"Hum Genomics"},{"issue":"7","key":"244_CR02445","doi-asserted-by":"publisher","first-page":"554","DOI":"10.1038\/nrm1423","volume":"5","author":"AH Futerman","year":"2004","unstructured":"Futerman AH, van Meer G (2004) The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol 5(7):554\u2013565","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"1","key":"244_CR02446","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/0003-2697(82)90674-1","volume":"119","author":"JJ Hopwood","year":"1982","unstructured":"Hopwood JJ, Harrison JR (1982) High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses. Anal Biochem 119(1):120\u2013127","journal-title":"Anal Biochem"},{"issue":"10","key":"244_CR02447","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.1002\/humu.21074","volume":"30","author":"WL Hwu","year":"2009","unstructured":"Hwu WL, Chien YH, Lee NC et al (2009) Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset mutation c.936\u2009+\u2009919G\u2009>\u2009A (IVS4\u2009+\u2009919G\u2009>\u2009A). Hum Mutat 30(10):1397\u20131405","journal-title":"Hum Mutat"},{"key":"244_CR02448","doi-asserted-by":"publisher","first-page":"2307","DOI":"10.1001\/jama.1993.03510190063028","volume":"270","author":"M Kaback","year":"1993","unstructured":"Kaback M, Lim Steele J, Dabholkar D et al (1993) Tay-Sachs disease carrier screening, prenatal diagnosis and the molecular era. An international perspective, 1970\u20131993. The international TSD data collection Network. JAMA 270:2307\u20132315","journal-title":"JAMA"},{"key":"244_CR02449","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/S0022-2275(20)39846-1","volume":"21","author":"HS Kruth","year":"1980","unstructured":"Kruth HS, Vaughan M (1980) Quantification of low density lipoprotein binding and cholesterol accumulation by single human fibroblasts using fluorescence microscopy. J Lipid Res 21:123\u2013130","journal-title":"J Lipid Res"},{"issue":"7","key":"244_CR024410","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1373\/clinchem.2009.141622","volume":"56","author":"D Marsden","year":"2010","unstructured":"Marsden D, Levy H (2010) Newborn screening of lysosomal storage disorders. Clin Chem 56(7):1071\u20131079","journal-title":"Clin Chem"},{"issue":"3","key":"244_CR024411","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 et al (1999) Prevalence of lysosomal storage disorders. JAMA 281(3):249\u2013254","journal-title":"JAMA"},{"issue":"3","key":"244_CR024412","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16(3):1215","journal-title":"Nucleic Acids Res"},{"issue":"6","key":"244_CR024413","doi-asserted-by":"publisher","first-page":"e39122","DOI":"10.1371\/journal.pone.0039122","volume":"7","author":"M Mistri","year":"2012","unstructured":"Mistri M, Tamhankar P, Sheth F et al (2012) Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. PLoS One 7(6):e39122. doi: 10.1371\/journalpone.0039122","journal-title":"PLoS One"},{"key":"244_CR024414","doi-asserted-by":"crossref","first-page":"18587","DOI":"10.1016\/S0021-9258(18)37323-X","volume":"263","author":"R Myerowitz","year":"1988","unstructured":"Myerowitz R, Costigan FC (1988) The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for alpha-chain of beta-hexosaminidase. J Biol Chem 263:18587\u201318589","journal-title":"J Biol Chem"},{"issue":"4758","key":"244_CR024415","doi-asserted-by":"publisher","first-page":"1646","DOI":"10.1126\/science.3754980","volume":"232","author":"R Myerowitz","year":"1986","unstructured":"Myerowitz R, Hogikyan ND (1986) Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease. Science 232(4758):1646\u201381986","journal-title":"Science"},{"issue":"6","key":"244_CR024416","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1177\/088307380401900610","volume":"19","author":"A Nalini","year":"2004","unstructured":"Nalini A, Christopher R (2004) Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients. J Child Neurol 19(6):447\u2013452","journal-title":"J Child Neurol"},{"issue":"2","key":"244_CR024417","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1152\/physiol.00041.2009","volume":"25","author":"EJ Parkinson-Lawrence","year":"2010","unstructured":"Parkinson-Lawrence EJ, Shandala T, Prodoehl M et al (2010) Lysosomal storage disease: revealing lysosomal function and physiology. Physiology 25(2):102\u2013115","journal-title":"Physiology"},{"issue":"2","key":"244_CR024418","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1038\/sj.ejhg.5201044","volume":"12","author":"R Pinto","year":"2004","unstructured":"Pinto R, Caseiro C, Lemos M et al (2004) Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12(2):87\u201392","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"244_CR024419","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1007\/s10545-010-9093-7","volume":"33","author":"H Poupetova","year":"2010","unstructured":"Poupetova H, Ledvinova J, Berna L et al (2010) The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 33(4):387\u2013396","journal-title":"J Inherit Metab Dis"},{"issue":"9","key":"244_CR024420","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1038\/nrm2745","volume":"10","author":"P Saftig","year":"2009","unstructured":"Saftig P, Klumperman J (2009) Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function. Nat Rev Mol Cell Biol 10(9):623\u2013635","journal-title":"Nat Rev Mol Cell Biol"},{"key":"244_CR024421","first-page":"19","volume-title":"Fluorometric assays in biochemical genetics: a laboratory Manual","author":"E Shapria","year":"1989","unstructured":"Shapria E, Blitzer MG, Miller JB et al (1989) Fluorometric assays in biochemical genetics: a laboratory Manual. New York: Oxford university press, New York, pp 19\u201346"},{"issue":"3","key":"244_CR024422","first-page":"260","volume":"41","author":"J Sheth","year":"2004","unstructured":"Sheth J, Patel P, Sheth F et al (2004) Lysosomal storage disorders. Indian Pediatr 41(3):260\u2013265","journal-title":"Indian Pediatr"},{"issue":"17","key":"244_CR024423","first-page":"505","volume":"45","author":"J Sheth","year":"2008","unstructured":"Sheth J, Sheth F, Oza N (2008) Niemann-pick type C disease. Indian Pediatr 45(17):505\u2013507","journal-title":"Indian Pediatr"},{"issue":"2","key":"244_CR024424","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1007\/s12098-009-0249-0","volume":"77","author":"J Sheth","year":"2010","unstructured":"Sheth J, Sheth F, Oza N et al (2010) Plasma chitotriosidase activity in children with lysosomal storage disorders. Indian J Pediatr 77(2):203\u2013205","journal-title":"Indian J Pediatr"},{"issue":"12","key":"244_CR024425","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1007\/s13312-012-0247-6","volume":"49","author":"J Sheth","year":"2012","unstructured":"Sheth J, Mistri M, Kamate M et al (2012) Diagnostic strategy for Mucolipidosis II\/III. Indian Pediatr 49(12):975\u2013977","journal-title":"Indian Pediatr"},{"issue":"1\u20132","key":"244_CR024426","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1016\/j.jns.2010.11.007","volume":"301","author":"P Shukla","year":"2011","unstructured":"Shukla P, Vasisht S, Srivastava R et al (2011) Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. J Neurol Sci 301(1\u20132):38\u201345","journal-title":"J Neurol Sci"},{"issue":"4","key":"244_CR024427","doi-asserted-by":"publisher","first-page":"1191","DOI":"10.1542\/peds.2008-0635","volume":"123","author":"O Staretz-Chacham","year":"2009","unstructured":"Staretz-Chacham O, Lang TC, La Marca ME et al (2009) Lysosomal storage disorders in the newborn. Pediatrics 123(4):1191\u20131207","journal-title":"Pediatrics"},{"issue":"4","key":"244_CR024428","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1111\/j.1365-2141.2004.05293.x","volume":"128","author":"A Vellodi","year":"2005","unstructured":"Vellodi A (2005) Lysosomal storage disorders. Br J Haematol 128(4):413\u2013431","journal-title":"Br J Haematol"},{"issue":"12","key":"244_CR024429","doi-asserted-by":"publisher","first-page":"893","DOI":"10.1007\/BF02723953","volume":"67","author":"IC Verma","year":"2000","unstructured":"Verma IC (2000) Burden of genetic disorders in India. Indian J Pediatr 67(12):893\u2013898","journal-title":"Indian J Pediatr"},{"issue":"10","key":"244_CR024430","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1007\/s13312-012-0192-4","volume":"49","author":"PK Verma","year":"2012","unstructured":"Verma PK, Rangnath P, Dalal AB et al (2012) Spectrum of lysosomal storage disorders at a Medical Genetics Center in North India. Indian Pediatr 49(10):799\u2013804","journal-title":"Indian Pediatr"},{"issue":"3","key":"244_CR024431","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1001\/archneur.60.3.322","volume":"60","author":"DA Wenger","year":"2003","unstructured":"Wenger DA, Coppola S, Liu SL (2003) Insights in to the diagnosis and treatment of lysosomal storage diseases. Arch Neurol 60(3):322\u2013328","journal-title":"Arch Neurol"}],"container-title":["JIMD Reports","JIMD Reports - Volume 12"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2013_244","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,28]],"date-time":"2022-02-28T17:04:12Z","timestamp":1646067852000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2013_244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"ISBN":["9783319034607","9783319034614"],"references-count":31,"URL":"https:\/\/doi.org\/10.1007\/8904_2013_244","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"value":"2192-8304","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}