{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T10:22:44Z","timestamp":1758709364868},"reference-count":33,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2015,5,1]],"date-time":"2015-05-01T00:00:00Z","timestamp":1430438400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"CNPq","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004263","name":"FAPERGS","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004263","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2015,5]]},"DOI":"10.1016\/j.cca.2015.03.014","type":"journal-article","created":{"date-parts":[[2015,3,27]],"date-time":"2015-03-27T23:33:34Z","timestamp":1427499214000},"page":"60-64","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Comparing the alpha-galactosidase A biochemical properties from healthy individuals and Fabry disease patients"],"prefix":"10.1016","volume":"445","author":[{"given":"Vanessa Vitcoski","family":"Daitx","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamila","family":"Mezzalira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vit\u00f3ria da Costa","family":"Moraes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Carolina","family":"Breier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaqueline","family":"C\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janice Carneiro","family":"Coelho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2015.03.014_bb0005","series-title":"The metabolic & molecular bases of inherited disease","first-page":"3733","article-title":"Alpha-galactosidase A deficiency: Fabry disease","author":"Desnick","year":"2001"},{"key":"10.1016\/j.cca.2015.03.014_bb0010","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.2015.03.014_bb0015","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset Fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cca.2015.03.014_bb0020","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.2015.03.014_bb0025","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/8904_2012_130","article-title":"Newborn screening for lysosomal storage disorders in Hungary","volume":"6","author":"Wittmann","year":"2012","journal-title":"JIMD Rep"},{"key":"10.1016\/j.cca.2015.03.014_bb0030","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.cccn.2004.10.019","article-title":"Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers","volume":"353","author":"Linthorst","year":"2005","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2015.03.014_bb0035","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1002\/ajmg.c.30291","article-title":"Newborn screening for lysosomal storage disorders","volume":"157","author":"Nakamura","year":"2011","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1016\/j.cca.2015.03.014_bb0040","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1016\/j.cca.2006.03.029","article-title":"Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases","volume":"372","author":"Civallero","year":"2006","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2015.03.014_bb0045","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0009-8981(01)00478-8","article-title":"Fabry disease: enzymatic diagnosis in dried blood spots on filter paper","volume":"308","author":"Chamoles","year":"2001","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2015.03.014_bb0050","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.clinbiochem.2011.03.138","article-title":"Influence of pre-analytical factors on alpha-galactosidase A, arylsulfatase B and alpha-glucosidase activities measured on dried blood spots on filter paper","volume":"44","author":"de Castilhos","year":"2011","journal-title":"Clin Biochem"},{"key":"10.1016\/j.cca.2015.03.014_bb0055","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1001\/archneur.60.3.322","article-title":"Insights into the diagnosis and treatment of lysosomal storage diseases","volume":"60","author":"Wenger","year":"2003","journal-title":"Arch Neurol"},{"key":"10.1016\/j.cca.2015.03.014_bb0060","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.cca.2015.03.014_bb0065","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1042\/BJ20070479","article-title":"Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin","volume":"406","author":"Ishii","year":"2007","journal-title":"Biochem J"},{"key":"10.1016\/j.cca.2015.03.014_bb0070","first-page":"157","article-title":"Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes","volume":"81","author":"Desnick","year":"1973","journal-title":"J Lab Clin Med"},{"key":"10.1016\/j.cca.2015.03.014_bb0075","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1016\/j.clinbiochem.2012.04.030","article-title":"Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma","volume":"45","author":"Daitx","year":"2012","journal-title":"Clin Biochem"},{"key":"10.1016\/j.cca.2015.03.014_bb0080","doi-asserted-by":"crossref","first-page":"9994","DOI":"10.1016\/S0021-9258(19)86663-2","article-title":"Studies on human liver alpha-galactosidases. I. Purification of alpha-galactosidase A and its enzymatic properties with glycolipid and oligosaccharide substrates","volume":"254","author":"Dean","year":"1979","journal-title":"J Biol Chem"},{"key":"10.1016\/j.cca.2015.03.014_bb0085","doi-asserted-by":"crossref","first-page":"e1003632","DOI":"10.1371\/journal.pgen.1003632","article-title":"Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in Fabry disease","volume":"9","author":"Lukas","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1016\/j.cca.2015.03.014_bb0090","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/S0009-8981(01)00593-9","article-title":"Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-l-iduronidase","volume":"312","author":"Mandelli","year":"2001","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2015.03.014_bb0095","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/S0188-4409(01)00334-4","article-title":"Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-l-iduronidase","volume":"33","author":"Mandelli","year":"2002","journal-title":"Arch Med Res"},{"key":"10.1016\/j.cca.2015.03.014_bb0100","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.cccn.2005.06.010","article-title":"Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers","volume":"362","author":"Michelin","year":"2005","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2015.03.014_bb0105","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.cccn.2004.01.010","article-title":"Biochemical study on beta-glucosidase in individuals with Gaucher's disease and normal subjects","volume":"343","author":"Michelin","year":"2004","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2015.03.014_bb0110","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1016\/j.clinbiochem.2006.12.003","article-title":"Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease","volume":"40","author":"Wajner","year":"2007","journal-title":"Clin Biochem"},{"key":"10.1016\/j.cca.2015.03.014_bb0115","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1016\/j.clinbiochem.2004.06.008","article-title":"Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann\u2013Pick diseases","volume":"37","author":"Wajner","year":"2004","journal-title":"Clin Biochem"},{"key":"10.1016\/j.cca.2015.03.014_bb0120","first-page":"24","article-title":"Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of l-iduronidase from dried blood spots","volume":"430C","author":"Campos","year":"2013","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2015.03.014_bb0125","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1182\/blood.V11.5.436.436","article-title":"Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leukocytes","volume":"11","author":"Skoog","year":"1956","journal-title":"Blood"},{"key":"10.1016\/j.cca.2015.03.014_bb0130","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein measurement with the Folin phenol reagent","volume":"193","author":"Lowry","year":"1951","journal-title":"J Biol Chem"},{"key":"10.1016\/j.cca.2015.03.014_bb0135","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1186\/1746-1596-5-65","article-title":"Reference values for lysosomal enzymes activities using dried blood spots samples \u2014 a Brazilian experience","volume":"5","author":"Muller","year":"2010","journal-title":"Diagn Pathol"},{"key":"10.1016\/j.cca.2015.03.014_bb0140","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.cca.2009.02.008","article-title":"Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper","volume":"403","author":"Olivova","year":"2009","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.cca.2015.03.014_bb0145","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1016\/j.clinbiochem.2011.03.008","article-title":"Dried blood spots in the diagnosis of lysosomal storage disorders \u2014 possibilities for newborn screening and high-risk population screening","volume":"44","author":"Lukacs","year":"2011","journal-title":"Clin Biochem"},{"key":"10.1016\/j.cca.2015.03.014_bb0150","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1016\/j.gene.2013.11.101","article-title":"Determination of the lysosomal hydrolase activity in blood collected on filter paper, an alternative to screen high risk populations","volume":"536","author":"Castilhos","year":"2014","journal-title":"Gene"},{"key":"10.1016\/j.cca.2015.03.014_bb0155","doi-asserted-by":"crossref","first-page":"1276","DOI":"10.1515\/CCLM.2005.219","article-title":"Deficient alpha-galactosidase A activity in plasma but no Fabry disease\u2014a pitfall in diagnosis","volume":"43","author":"Hoffmann","year":"2005","journal-title":"Clin Chem Lab Med"},{"key":"10.1016\/j.cca.2015.03.014_bb0160","doi-asserted-by":"crossref","first-page":"139","DOI":"10.2215\/CJN.02490607","article-title":"Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test","volume":"3","author":"Andrade","year":"2008","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1016\/j.cca.2015.03.014_bb0165","series-title":"Biochemistry","first-page":"211","article-title":"Enzymes: basic concepts and kinetics","author":"Berg","year":"2010"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898115001461?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898115001461?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,5,3]],"date-time":"2022-05-03T19:22:13Z","timestamp":1651605733000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898115001461"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5]]},"references-count":33,"alternative-id":["S0009898115001461"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2015.03.014","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2015,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Comparing the alpha-galactosidase A biochemical properties from healthy individuals and Fabry disease patients","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2015.03.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}