{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T17:30:32Z","timestamp":1783704632605,"version":"3.55.0"},"reference-count":37,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Research Development Board of Sir Ganga Ram Hospital (SGRH)"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1016\/j.ejmg.2015.08.002","type":"journal-article","created":{"date-parts":[[2015,8,8]],"date-time":"2015-08-08T06:37:28Z","timestamp":1439015848000},"page":"471-478","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":31,"title":["Identification of mutations, genotype\u2013phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients"],"prefix":"10.1016","volume":"58","author":[{"given":"Deepti","family":"Gupta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5255-8212","authenticated-orcid":false,"given":"Sunita","family":"Bijarnia-Mahay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renu","family":"Saxena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sudha","family":"Kohli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ratna","family":"Dua-Puri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jyotsna","family":"Verma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Shigematsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roumi","family":"Deb","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ishwar Chander","family":"Verma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"4","key":"10.1016\/j.ejmg.2015.08.002_bib1","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A\u00a0method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"issue":"3","key":"10.1016\/j.ejmg.2015.08.002_bib2","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/S0969-2126(00)00105-2","article-title":"Crystal structure of human branchred chain alpha ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease","volume":"8","author":"Aevarsson","year":"2000","journal-title":"Structure"},{"issue":"1","key":"10.1016\/j.ejmg.2015.08.002_bib3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/humu.22704","article-title":"Clinical applications and implications of common and founder mutations in Indian subpopulations","volume":"36","author":"Ankala","year":"2015","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.ejmg.2015.08.002_bib4","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/BF02715905","article-title":"Endogamy, consanguinity and community genetics","volume":"81","author":"Bittles","year":"2002","journal-title":"J.\u00a0Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2015.08.002_bib5","doi-asserted-by":"crossref","first-page":"3122","DOI":"10.1002\/jcb.24189","article-title":"Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1\u03b1 and E1\u03b2","volume":"113","author":"Bashyam","year":"2012","journal-title":"J.\u00a0Cell Biochem."},{"issue":"4","key":"10.1016\/j.ejmg.2015.08.002_bib6","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.ymgme.2010.04.017","article-title":"Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation","volume":"100","author":"Brodtkorb","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ejmg.2015.08.002_bib7","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1172\/JCI117804","article-title":"Molecular and biochemical basis of intermediate maple syrup urine disease: occurrence of homozygous G245R and F364C mutations at the Ela Locus of Hispanic-Mexican patients","volume":"95","author":"Chuang","year":"1995","journal-title":"J.\u00a0Clin. Investig."},{"issue":"3","key":"10.1016\/j.ejmg.2015.08.002_bib8","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1172\/JCI119586","article-title":"E2 transacylase-deficient (Type II) maple syrup urine disease aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype","volume":"100","author":"Chuang","year":"1997","journal-title":"J.\u00a0Clin. Investig."},{"key":"10.1016\/j.ejmg.2015.08.002_bib9","doi-asserted-by":"crossref","first-page":"S17","DOI":"10.1016\/S0022-3476(98)70523-2","article-title":"Maple syrup urine disease: it has come a long way","volume":"132","author":"Chuang","year":"1998","journal-title":"J.\u00a0Pediatr."},{"key":"10.1016\/j.ejmg.2015.08.002_bib10","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"1250","article-title":"Maple syrup urine disease (branched chain ketoaciduria)","author":"Chuang","year":"2001"},{"issue":"17","key":"10.1016\/j.ejmg.2015.08.002_bib11","doi-asserted-by":"crossref","first-page":"17792","DOI":"10.1074\/jbc.M313879200","article-title":"Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype","volume":"279","author":"Chuang","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"issue":"1 Suppl.\u00a0l","key":"10.1016\/j.ejmg.2015.08.002_bib12","doi-asserted-by":"crossref","first-page":"243S","DOI":"10.1093\/jn\/136.1.243S","article-title":"Branched-chain amino acids: metabolism, physiological function, and application. Lessons from genetic disorders of branched- chain amino acid metabolism1\u20133","volume":"136","author":"Chuang","year":"2006","journal-title":"J.\u00a0Nutr."},{"issue":"Web Server Issue","key":"10.1016\/j.ejmg.2015.08.002_bib13","doi-asserted-by":"crossref","first-page":"W306","DOI":"10.1093\/nar\/gki375","article-title":"I-Mutant2.0: predicting stability changes upon mutation from the protein sequence or structure","volume":"33","author":"Capriotti","year":"2005","journal-title":"Nucleic Acids Res."},{"issue":"11","key":"10.1016\/j.ejmg.2015.08.002_bib14","doi-asserted-by":"crossref","first-page":"2820","DOI":"10.1002\/ajmg.a.35620","article-title":"Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia","volume":"158A","author":"Dalal","year":"2012","journal-title":"Am. J. Med. Genet. Part A."},{"key":"10.1016\/j.ejmg.2015.08.002_bib15","doi-asserted-by":"crossref","first-page":"517","DOI":"10.2741\/A299","article-title":"Human mutations affecting branched chain AA-ketoacid dehydrogenase","volume":"3","author":"Danner","year":"1998","journal-title":"Front. Biosci."},{"issue":"4","key":"10.1016\/j.ejmg.2015.08.002_bib16","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1086\/323677","article-title":"Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population","volume":"69","author":"Edelmann","year":"2001","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2015.08.002_bib17","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1007\/s10545-007-0579-x","article-title":"Description of the mutations in 15 subjects with variant forms of maple syrup urine disease","volume":"30","author":"Flaschker","year":"2007","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"issue":"2","key":"10.1016\/j.ejmg.2015.08.002_bib18","first-page":"97","article-title":"Molecular genetics of maple syrup urine disease in the Turkish population","volume":"51","author":"Gorzelany","year":"2009","journal-title":"Turk. J. Pediatr."},{"issue":"15","key":"10.1016\/j.ejmg.2015.08.002_bib19","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","article-title":"SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling","volume":"18","author":"Guex","year":"1997","journal-title":"Electrophoresis"},{"issue":"5","key":"10.1016\/j.ejmg.2015.08.002_bib20","doi-asserted-by":"crossref","DOI":"10.1002\/humu.9187","article-title":"Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease","volume":"22","author":"Henneke","year":"2003","journal-title":"Hum. Mutat."},{"issue":"7","key":"10.1016\/j.ejmg.2015.08.002_bib21","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nat. Protoc."},{"issue":"21","key":"10.1016\/j.ejmg.2015.08.002_bib22","doi-asserted-by":"crossref","first-page":"2744","DOI":"10.1093\/bioinformatics\/btp528","article-title":"Automated inference of molecular mechanisms of disease from amino acid substitutions","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"issue":"3","key":"10.1016\/j.ejmg.2015.08.002_bib23","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A\u00a0simple salting out procedure for extracting DNA from nucleated cells","volume":"16","author":"Miller","year":"1988","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2015.08.002_bib24","series-title":"Hydrophobic Interactions in Proteins. Encyclopedia of Life Sciences eLS","author":"Matthews","year":"2001"},{"issue":"6","key":"10.1016\/j.ejmg.2015.08.002_bib25","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.clinbiochem.2009.12.009","article-title":"Screening for inborn errors of metabolism using automated electrospray tandem mass spectrometry: study in high-risk Indian population","volume":"43","author":"Nagaraja","year":"2010","journal-title":"Clin. Biochem."},{"issue":"5","key":"10.1016\/j.ejmg.2015.08.002_bib26","first-page":"442","article-title":"Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations","volume":"50","author":"Narayanan","year":"2013","journal-title":"Indian J. Biochem. Biophys."},{"issue":"1","key":"10.1016\/j.ejmg.2015.08.002_bib27","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1086\/316950","article-title":"Gene preference in maple syrup urine disease","volume":"68","author":"Nellis","year":"2001","journal-title":"Am. J. Hum. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2015.08.002_bib29","first-page":"886","article-title":"Maple syrup urine disease in a Bedouin tribe: pre- and postnatal diagnosis","volume":"23","author":"Potashnik","year":"1987","journal-title":"Isr. J. Med. Sci."},{"issue":"2","key":"10.1016\/j.ejmg.2015.08.002_bib30","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/j.ymgme.2008.02.008","article-title":"Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community","volume":"94","author":"Quental","year":"2008","journal-title":"Mol. Genet. Metab."},{"issue":"7","key":"10.1016\/j.ejmg.2015.08.002_bib31","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1002\/humu.9428","article-title":"Mutational spectrum of Maple syrup urine disease in Spain","volume":"27","author":"Rodriguez-Pombo","year":"2006","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.ejmg.2015.08.002_bib32","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1089\/cmb.1997.4.311","article-title":"Improved splice site detection in genie","volume":"4","author":"Reese","year":"1997","journal-title":"J.\u00a0Comp. Biol."},{"issue":"5\u20136","key":"10.1016\/j.ejmg.2015.08.002_bib33","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1159\/000257426","article-title":"Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients","volume":"24","author":"Ramalho","year":"2009","journal-title":"Cell Physiol. Biochem."},{"issue":"1","key":"10.1016\/j.ejmg.2015.08.002_bib34","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/gm13","article-title":"The human gene mutation database: 2008 update","volume":"1","author":"Stenson","year":"2009","journal-title":"Genome Med."},{"issue":"4","key":"10.1016\/j.ejmg.2015.08.002_bib35","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ejmg.2015.08.002_bib36","series-title":"GeneReviews\u00ae [Internet]","article-title":"Maple syrup urine disease","author":"Strauss","year":"2013"},{"key":"10.1016\/j.ejmg.2015.08.002_bib37","doi-asserted-by":"crossref","first-page":"S33","DOI":"10.1007\/s10545-009-1022-2","article-title":"Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease","volume":"32","author":"Tammachote","year":"2009","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2015.08.002_bib38","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1002\/humu.21547","article-title":"Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease","volume":"32","author":"Wolf","year":"2011","journal-title":"Hum. Mutat."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215300094?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215300094?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:42:07Z","timestamp":1761709327000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721215300094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":37,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["S1769721215300094"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2015.08.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2015,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Identification of mutations, genotype\u2013phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2015.08.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}