{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T11:34:14Z","timestamp":1780054454543,"version":"3.54.0"},"reference-count":30,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2005,12,1]],"date-time":"2005-12-01T00:00:00Z","timestamp":1133395200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,12,1]],"date-time":"2005-12-01T00:00:00Z","timestamp":1133395200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100004329","name":"Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004329","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2005,12]]},"DOI":"10.1016\/j.ymgme.2005.07.026","type":"journal-article","created":{"date-parts":[[2005,9,27]],"date-time":"2005-09-27T10:19:28Z","timestamp":1127816368000},"page":"466-472","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations"],"prefix":"10.1016","volume":"86","author":[{"given":"R.J.","family":"Pomponio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.A.","family":"Cabrera-Salazar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.Y.","family":"Echeverri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.A.","family":"Barrera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ymgme.2005.07.026_bib1","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/0888-7543(89)90319-4","article-title":"The human glucocerebrosidase gene and pseudogene: structure and evolution","volume":"4","author":"Horowitz","year":"1989","journal-title":"Genomics"},{"key":"10.1016\/j.ymgme.2005.07.026_bib2","series-title":"The Metabolic Basis of Inherited Disease","first-page":"1677","article-title":"Glucosylceramide lipidoses: Gaucher disease","author":"Barranger","year":"1989"},{"key":"10.1016\/j.ymgme.2005.07.026_bib3","first-page":"621","article-title":"Gaucher\u2019s disease: past, present and future. Baillieres","volume":"104","author":"Brady","year":"1997","journal-title":"Clin. Haematol."},{"key":"10.1016\/j.ymgme.2005.07.026_bib4","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/s11926-000-0059-x","article-title":"Bone and joint complications related to Gaucher disease","volume":"2","author":"Pastores","year":"2000","journal-title":"Curr. Rheumatol. Rep."},{"issue":"3","key":"10.1016\/j.ymgme.2005.07.026_bib5","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1023\/A:1010514614570","article-title":"Neuronopathic Gaucher disease task force of the European working group on Gaucher disease. Management of neuronopathic Gaucher disease: a European consensus","volume":"24","author":"Vellodi","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2005.07.026_bib6","series-title":"The Metabolic and Molecular Basis of Inherited Disease","first-page":"3635","article-title":"Gaucher disease","author":"Beutler","year":"2001"},{"issue":"2","key":"10.1016\/j.ymgme.2005.07.026_bib7","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1067\/S0022-3476(03)00302-0","article-title":"Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3","volume":"143","author":"Goker-Alpan","year":"2003","journal-title":"J. Pediatr."},{"issue":"6","key":"10.1016\/j.ymgme.2005.07.026_bib8","first-page":"1094","article-title":"Phenotype\/genotype correlations in Gaucher disease type I: clinical and therapeutic implications","volume":"52","author":"Sibille","year":"1993","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.ymgme.2005.07.026_bib9","doi-asserted-by":"crossref","first-page":"2014","DOI":"10.1086\/302935","article-title":"On the age of the most prevalent Gaucher disease-causing mutation, N370S","volume":"66","author":"Diaz","year":"2000","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2005.07.026_bib10","first-page":"275","article-title":"Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene","volume":"47","author":"Dahl","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2005.07.026_bib11","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1203\/00006450-199210000-00023","article-title":"Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene","volume":"32","author":"Sidransky","year":"1992","journal-title":"Pediat. Res."},{"issue":"1\u20132","key":"10.1016\/j.ymgme.2005.07.026_bib12","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1007\/s004399900076","article-title":"Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation","volume":"105","author":"Ida","year":"1999","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2005.07.026_bib13","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<343::AID-AJMG8>3.0.CO;2-W","article-title":"Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation","volume":"80","author":"Cormand","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ymgme.2005.07.026_bib14","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<295::AID-HUMU7>3.0.CO;2-6","article-title":"Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome","volume":"11","author":"Cormand","year":"1998","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2005.07.026_bib15","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0165-022X(00)00149-4","article-title":"Denaturing high-performance liquid chromatography (dHPLC) is a highly sensitive, semi-automated method for identifying mutations in the TSC gene","volume":"47","author":"Roberts","year":"2001","journal-title":"J. Biochem. Biophys. Methods"},{"key":"10.1016\/j.ymgme.2005.07.026_bib16","doi-asserted-by":"crossref","first-page":"1396","DOI":"10.1093\/nar\/26.6.1396","article-title":"Denaturing high performance liquid chromatography (dHPLC) used in the detection of germline and somatic mutations","volume":"26","author":"Liu","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ymgme.2005.07.026_bib17","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1007\/s004390100490","article-title":"Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high performance liquid chromatography (d-HPLC): major implications for genetic counselling","volume":"108","author":"Le Marechal","year":"2001","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2005.07.026_bib18","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/humu.20144","article-title":"Detection of a-galactosidase A mutations causing Fabry disease by denaturing high performance liquid chromatography","volume":"25","author":"Shabbeer","year":"2005","journal-title":"Hum. Mut."},{"key":"10.1016\/j.ymgme.2005.07.026_bib19","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S0165-022X(00)00148-2","article-title":"DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2","volume":"47","author":"Holinski-Feder","year":"2001","journal-title":"J. Biochem. Biophys. Methods"},{"key":"10.1016\/j.ymgme.2005.07.026_bib20","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1126\/science.155.3758.86","article-title":"Diagnosis of Gaucher\u2019s disease and Niemann\u2013Pick disease with small samples of venous blood","volume":"155","author":"Kampine","year":"1967","journal-title":"Science"},{"key":"10.1016\/j.ymgme.2005.07.026_bib21","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1021\/bi00052a019","article-title":"Betaine can eliminate the base pair composition dependence of DNA melting","volume":"32","author":"Rees","year":"1993","journal-title":"Biochemistry"},{"issue":"19","key":"10.1016\/j.ymgme.2005.07.026_bib22","doi-asserted-by":"crossref","first-page":"3957","DOI":"10.1093\/nar\/25.19.3957","article-title":"Betaine improves the PCR amplification of GC-rich DNA sequences","volume":"25","author":"Henke","year":"1997","journal-title":"Nucleic Acids Res."},{"issue":"1","key":"10.1016\/j.ymgme.2005.07.026_bib23","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1002\/humu.9301","article-title":"Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1","volume":"25","author":"Miocic","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ymgme.2005.07.026_bib24","first-page":"792","article-title":"Report of the Spanish Gaucher\u2019s disease registry: clinical and genetic characteristics","volume":"85","author":"Giraldo","year":"2000","journal-title":"Haematologica"},{"issue":"6","key":"10.1016\/j.ymgme.2005.07.026_bib25","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1172\/JCI5168","article-title":"Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 Gaucher disease","volume":"103","author":"Grace","year":"1999","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2005.07.026_bib26","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1007\/BF00200914","article-title":"Three unique base pair changes in a family with Gaucher disease","volume":"87","author":"Eyal","year":"1991","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2005.07.026_bib27","first-page":"328","article-title":"Three unique base pair changes in a family with Gaucher disease","volume":"87","author":"Orvisky","year":"1991","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2005.07.026_bib28","unstructured":"M.H. Solano, C.A. Ramirez, J. Caro, L. Rengifo, M.C. Gonzalez, B. Ospino, M. Vizca\u00edno, W. B\u00e1rcenas, U. Escobar, A. Linares, M.A. Cabrera, J.V. Loboguerrero, Description of Colombian population affected by Gaucher disease: 12 month hematologic response in patients on enzyme replacement therapy (ERT), in: Proceedings of the III Latin American Congress of Inborn Errors of Metabolism and Newborn Screening. Cartagena, Colombia, October 21\u201324, 2001."},{"issue":"18","key":"10.1016\/j.ymgme.2005.07.026_bib29","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1001\/archinte.160.18.2835","article-title":"The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease","volume":"160","author":"Charrow","year":"2000","journal-title":"Arch. Intern. Med."},{"issue":"1","key":"10.1016\/j.ymgme.2005.07.026_bib30","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s004390050594","article-title":"A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA","volume":"101","author":"Kato","year":"1997","journal-title":"Hum. Genet."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719205002477?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719205002477?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T23:16:44Z","timestamp":1761088604000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719205002477"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12]]},"references-count":30,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["S1096719205002477"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2005.07.026","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2005,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgme.2005.07.026","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2005 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}