{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:10:42Z","timestamp":1760983842895,"version":"3.44.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"3-4","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2011,1]]},"DOI":"10.1016\/j.cca.2010.11.006","type":"journal-article","created":{"date-parts":[[2010,11,10]],"date-time":"2010-11-10T04:28:08Z","timestamp":1289363288000},"page":"343-346","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"title":["Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry"],"prefix":"10.1016","volume":"412","author":[{"given":"Elisa","family":"Legini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph J.","family":"Orsini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina","family":"Hung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amanda","family":"Showers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Scarpa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X Kate","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joan","family":"Keutzer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adolf","family":"M\u00fchl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olaf A.","family":"Bodamer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2010.11.006_bb0005","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/S0950-3536(97)80033-9","article-title":"Gaucher's disease: clinical features and natural history","volume":"10","author":"Cox","year":"1997","journal-title":"Bailli\u00e8res Clin Haematol"},{"key":"10.1016\/j.cca.2010.11.006_bb0010","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ymgme.2004.08.015","article-title":"Gaucher disease: complexity in a simple disorder","volume":"83","author":"Sidransky","year":"2004","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.cca.2010.11.006_bb0015","doi-asserted-by":"crossref","first-page":"4242","DOI":"10.1074\/jbc.M511110200","article-title":"Analyses of variant acid \u03b2-glucosidases: effect of Gaucher disease mutations","volume":"281","author":"Liou","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.cca.2010.11.006_bb0020","doi-asserted-by":"crossref","first-page":"3661","DOI":"10.1016\/S0021-9258(19)67845-2","article-title":"Characterization of human glucocerebrosidase from different mutant alleles","volume":"266","author":"Ohashi","year":"1991","journal-title":"J Biol Chem"},{"key":"10.1016\/j.cca.2010.11.006_bb0025","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/(SICI)1096-9896(199908)188:4<407::AID-PATH377>3.0.CO;2-Z","article-title":"Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)","volume":"188","author":"Zimmer","year":"1999","journal-title":"J Pathol"},{"key":"10.1016\/j.cca.2010.11.006_bb0030","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"10.1016\/j.cca.2010.11.006_bb0035","doi-asserted-by":"crossref","first-page":"1464","DOI":"10.1056\/NEJM199105233242104","article-title":"Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease","volume":"324","author":"Barton","year":"1991","journal-title":"N Engl J Med"},{"key":"10.1016\/j.cca.2010.11.006_bb0040","doi-asserted-by":"crossref","first-page":"33","DOI":"10.7326\/0003-4819-122-1-199501010-00005","article-title":"Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources","volume":"122","author":"Grabowski","year":"1995","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.cca.2010.11.006_bb0045","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.jbspin.2007.06.006","article-title":"Gaucher Disease","volume":"75","author":"Guggenbuhl","year":"2008","journal-title":"Joint Bone Spine"},{"key":"10.1016\/j.cca.2010.11.006_bb0050","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1053\/j.seminhematol.2004.07.009","article-title":"Therapeutic goals in the treatment of Gaucher disease","volume":"41","author":"Pastores","year":"2004","journal-title":"Semin Hematol"},{"key":"10.1016\/j.cca.2010.11.006_bb0055","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1002\/ajh.20504","article-title":"Guidance on the use of miglustat for treating patients with type1 Gaucher disease","volume":"80","author":"Weinreb","year":"2005","journal-title":"Am J Hematol"},{"key":"10.1016\/j.cca.2010.11.006_bb0060","doi-asserted-by":"crossref","first-page":"3146","DOI":"10.1021\/jm801506m","article-title":"Rational design and synthesis of highly potent pharmacological chaperones for treatment of N370S mutant Gaucher disease","volume":"52","author":"Wang","year":"2009","journal-title":"J Med Chem"},{"issue":"Suppl 1","key":"10.1016\/j.cca.2010.11.006_bb0065","doi-asserted-by":"crossref","first-page":"S34","DOI":"10.1007\/s00431-003-1348-y","article-title":"Lysosomal storage disorders: emerging therapeutic options require early diagnosis","volume":"162","author":"Meikle","year":"2003","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.cca.2010.11.006_bb0070","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/S0009-8981(01)00798-7","article-title":"Gaucher and Niemann\u2013Pick diseases\u2014enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards","volume":"317","author":"Chamoles","year":"2002","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2010.11.006_bb0075","doi-asserted-by":"crossref","first-page":"1785","DOI":"10.1373\/clinchem.2004.035907","article-title":"Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening","volume":"50","author":"Li","year":"2004","journal-title":"Clin Chem"},{"key":"10.1016\/j.cca.2010.11.006_bb0080","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10545-006-0265-4","article-title":"Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders","volume":"29","author":"Gelb","year":"2006","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.cca.2010.11.006_bb0085","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1002\/humu.21074","article-title":"Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)","volume":"30","author":"Hwu","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.cca.2010.11.006_bb0090","doi-asserted-by":"crossref","first-page":"1428","DOI":"10.1016\/j.cca.2010.03.009","article-title":"Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry","volume":"411","author":"Dajnoki","year":"2010","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2010.11.006_bb0095","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1016\/j.pediatrneurol.2008.11.010","article-title":"Newborn screening for Krabbe disease: the New York State model","volume":"40","author":"Duffner","year":"2009","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.cca.2010.11.006_bb0100","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.clinbiochem.2009.01.022","article-title":"Implementation of newborn screening for Krabbe disease: population study and cutoff determination","volume":"42","author":"Orsini","year":"2009","journal-title":"Clin Biochem"},{"key":"10.1016\/j.cca.2010.11.006_bb0105","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.1373\/clinchem.2008.107722","article-title":"Newborn screening for Pompe disease by measuring acid \u03b1-glucosidase activity using tandem mass spectrometry","volume":"54","author":"Dajnoki","year":"2008","journal-title":"Clin Chem"},{"key":"10.1016\/j.cca.2010.11.006_bb0110","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/S0002-9343(02)01150-6","article-title":"Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5years of treatment: a report from the Gaucher registry","volume":"113","author":"Weinreb","year":"2002","journal-title":"Am J Med"},{"key":"10.1016\/j.cca.2010.11.006_bb0115","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1373\/clinchem.2009.141622","article-title":"Newborn screening of lysosomal storage disorders","volume":"56","author":"Marsden","year":"2010","journal-title":"Clin Chem"},{"key":"10.1016\/j.cca.2010.11.006_bb0120","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s10545-010-9130-6","article-title":"Newborn screening for neuropathic lysosomal storage disorders","volume":"33","author":"Hwu","year":"2010","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.cca.2010.11.006_bb0125","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1542\/peds.111.6.1399","article-title":"Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications","volume":"111","author":"Schulze","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.cca.2010.11.006_bb0130","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.cca.2006.04.013","article-title":"Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry","volume":"373","author":"Holub","year":"2006","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2010.11.006_bb0135","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.cca.2010.03.010","article-title":"Semi-quantitative method for determination of hematocrit in dried blood spots using data collected in HPLC hemoglobin variant testing","volume":"411","author":"Orsini","year":"2010","journal-title":"Clin Chim Acta"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898110006868?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898110006868?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T14:42:28Z","timestamp":1757860948000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898110006868"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1]]},"references-count":27,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["S0009898110006868"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2010.11.006","relation":{},"ISSN":["0009-8981"],"issn-type":[{"type":"print","value":"0009-8981"}],"subject":[],"published":{"date-parts":[[2011,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2010.11.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}