{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T12:51:18Z","timestamp":1765975878477,"version":"3.44.0"},"reference-count":36,"publisher":"Elsevier BV","issue":"10-11","license":[{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"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":["Clinical Biochemistry"],"published-print":{"date-parts":[[2011,7]]},"DOI":"10.1016\/j.clinbiochem.2011.03.141","type":"journal-article","created":{"date-parts":[[2011,4,19]],"date-time":"2011-04-19T05:56:19Z","timestamp":1303192579000},"page":"916-921","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients"],"prefix":"10.1016","volume":"44","author":[{"given":"Luca","family":"Massaccesi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Burlina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia J.","family":"Baquero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giancarlo","family":"Goi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro P.","family":"Burlina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guido","family":"Tettamanti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0005","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/0304-4157(95)00004-B","article-title":"Mannose 6-phosphate receptors in sorting and transport of lysosomal enzymes","volume":"1241","author":"Hille-Rehfeld","year":"1995","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0010","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1042\/bst0180367","article-title":"Lysosomal enzyme targeting","volume":"18","author":"Kornfeld","year":"1990","journal-title":"Biochem Soc Trans"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0015","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1146\/annurev.cb.05.110189.002411","article-title":"The biogenesis of lysosomes","volume":"5","author":"Kornfeld","year":"1989","journal-title":"Annu Rev Cell Biol"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0020","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1006\/mgme.2000.3140","article-title":"Enzyme replacement therapy in feline mucopolysaccharidosis I","volume":"72","author":"Kakkis","year":"2001","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0025","doi-asserted-by":"crossref","first-page":"1988","DOI":"10.1096\/fj.00-0014com","article-title":"Infusion of recombinant human acid sphingomyelinase into Niemann\u2013Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology","volume":"14","author":"Miranda","year":"2000","journal-title":"FASEB J"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0030","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","article-title":"Enzyme replacement therapy in Fabry disease: a randomized controlled trial","volume":"285","author":"Schiffmann","year":"2001","journal-title":"Jama"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0035","doi-asserted-by":"crossref","first-page":"e448","DOI":"10.1542\/peds.113.5.e448","article-title":"Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk","volume":"113","author":"Van den Hout","year":"2004","journal-title":"Pediatrics"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0040","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.clinbiochem.2011.03.141_bb0045","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.2165\/00003495-200767180-00005","article-title":"Treatment of lysosomal storage disorders : progress with enzyme replacement therapy","volume":"67","author":"Rohrbach","year":"2007","journal-title":"Drugs"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0050","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-006-0280-4","article-title":"New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy","volume":"121","author":"Beck","year":"2007","journal-title":"Hum Genet"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0055","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.pharmthera.2009.01.003","article-title":"Fabry disease","volume":"122","author":"Schiffmann","year":"2009","journal-title":"Pharmacol Ther"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0060","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1016\/S0140-6736(05)67635-0","article-title":"Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study","volume":"366","author":"Rolfs","year":"2005","journal-title":"Lancet"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0065","doi-asserted-by":"crossref","first-page":"788","DOI":"10.1161\/STROKEAHA.108.526293","article-title":"Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry","volume":"40","author":"Sims","year":"2009","journal-title":"Stroke"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0070","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","article-title":"Fabry's disease","volume":"372","author":"Zarate","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0075","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1373\/clinchem.2004.037937","article-title":"Immunoquantification of alpha-galactosidase: evaluation for the diagnosis of Fabry disease","volume":"50","author":"Fuller","year":"2004","journal-title":"Clin Chem"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0080","doi-asserted-by":"crossref","first-page":"6113","DOI":"10.1021\/ac900504s","article-title":"New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography\/mass spectrometry","volume":"81","author":"la Marca","year":"2009","journal-title":"Anal Chem"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0085","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1373\/clinchem.2008.104711","article-title":"Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry","volume":"54","author":"Zhang","year":"2008","journal-title":"Clin Chem"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0090","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.clinbiochem.2011.03.141_bb0095","doi-asserted-by":"crossref","unstructured":"Caudron E, Germain DP, Prognon P. [Fabry disease: enzymatic screening using dried blood spots on filter paper]. Rev Med Interne 2010;31(Suppl 2):S263-269.","DOI":"10.1016\/S0248-8663(10)70025-4"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0100","first-page":"48","article-title":"Recent advances of Fabry disease screening for at risk population.","volume":"21","author":"Caudron","year":"2005","journal-title":"Med Sci Paris"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0105","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.cca.2008.12.006","article-title":"Rapid diagnostic testing procedures for lysosomal storage disorders: alpha-glucosidase and beta-galactosidase assays on dried blood spots","volume":"402","author":"Gasparotto","year":"2009","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0110","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.clinbiochem.2011.03.141_bb0115","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1007\/s10545-005-0039-4","article-title":"The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients","volume":"28","author":"Lukacs","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0120","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/0009-8981(84)90075-5","article-title":"Behaviour of several enzymes of lysosomal origin in human plasma during pregnancy","volume":"143","author":"Lombardo","year":"1984","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0125","first-page":"595","article-title":"Preparation of a stable liquid material for calibration and quality control for lysosomal enzymes in plasma. Assay of enzymes of lysosomal origin in plasma, I","volume":"30","author":"Goi","year":"1992","journal-title":"Eur J Clin Chem Clin Biochem"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0130","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1126\/science.155.3758.86","article-title":"Diagnosis of Gaucher's disease and Niemann\u2013Pick disease with small samples of venous blood","volume":"155","author":"Kampine","year":"1967","journal-title":"Science"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0135","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/0009-8981(84)90313-9","article-title":"Lysosomal glycohydrolases in normal T and non-T peripheral lymphocytes","volume":"137","author":"Lombardo","year":"1984","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0140","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1093\/clinchem\/32.3.470","article-title":"Graphical comparisons of interferences in clinical chemistry instrumentation","volume":"32","author":"Glick","year":"1986","journal-title":"Clin Chem"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0145","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1016\/0009-8981(80)90339-3","article-title":"Enzymes of lysosomal origin in human plasma and serum: assay conditions and parameters influencing the assay","volume":"108","author":"Lombardo","year":"1980","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0150","first-page":"45","article-title":"Lipid storage diseases: biochemical diagnosis","volume":"13","author":"Tettamanti","year":"1977","journal-title":"Biochem Exp Biol"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0155","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"},{"year":"1956","series-title":"Statistical methods applied to experiments in agriculture and biology","author":"Snedeecor","key":"10.1016\/j.clinbiochem.2011.03.141_bb0160"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0165","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1093\/clinchem\/27.1.202a","article-title":"Observations on comparisons of within-run and day-to-day precision","volume":"27","author":"Krouwer","year":"1981","journal-title":"Clin Chem"},{"article-title":"NCCLS DE-T","year":"1989","series-title":"Preliminary evaluation of Clinical Chemistry methods","key":"10.1016\/j.clinbiochem.2011.03.141_bb0170"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0175","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1093\/ndt\/gfg194","article-title":"alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease","volume":"18","author":"Linthorst","year":"2003","journal-title":"Nephrol Dial Transplant"},{"key":"10.1016\/j.clinbiochem.2011.03.141_bb0180","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1023\/A:1025904132569","article-title":"Towards quality assurance in the determination of lysosomal enzymes: a two-centre study","volume":"26","author":"Lukacs","year":"2003","journal-title":"J Inherit Metab Dis"}],"container-title":["Clinical Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912011003018?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912011003018?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:35:31Z","timestamp":1757864131000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009912011003018"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,7]]},"references-count":36,"journal-issue":{"issue":"10-11","published-print":{"date-parts":[[2011,7]]}},"alternative-id":["S0009912011003018"],"URL":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2011.03.141","relation":{},"ISSN":["0009-9120"],"issn-type":[{"type":"print","value":"0009-9120"}],"subject":[],"published":{"date-parts":[[2011,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Whole-blood alpha-D-galactosidase A activity for the identification of Fabry's patients","name":"articletitle","label":"Article Title"},{"value":"Clinical Biochemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2011.03.141","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2011 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}