{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T08:35:34Z","timestamp":1781858134053,"version":"3.54.5"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2010,12,1]],"date-time":"2010-12-01T00:00:00Z","timestamp":1291161600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["DK67859"],"award-info":[{"award-number":["DK67859"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["HHSN26700603429"],"award-info":[{"award-number":["HHSN26700603429"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,12,1]]},"abstract":"<jats:sec>\n                  <jats:title>BACKGROUND<\/jats:title>\n                  <jats:p>We sought to develop a tandem mass spectrometry assay in which the enzymatic activities of 3 lysosomal enzymes (\u03b1-glucosidase, \u03b1-galactosidase A, and \u03b1-l-iduronidase) could be quantified in dried blood spots by using a single assay buffer.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>METHODS<\/jats:title>\n                  <jats:p>A 3-mm dried blood spot punch was incubated in a single assay buffer with 3 different substrates and internal standards. The sample was processed by a simple liquid-liquid extraction by using ethyl acetate. The extract was dried down and resuspended in solvent for injection into the tandem mass spectrometer. Products and internal standards were monitored by multiple reaction monitoring.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS<\/jats:title>\n                  <jats:p>Assay for the 3 lysosomal enzymes was successfully achieved with acceptable statistics. The assay can be performed by using a minimal quantity of disposable supplies and equipment. The entire procedure fits into a 48-h cycle including data analysis. Data from 5990 anonymous newborn dried blood spots showed an approximate bell-shaped distribution of enzymatic activities (mean values of 19.0, 11.5, and 3.5 \u03bcmol \u00b7 h\u22121 \u00b7 (L blood)\u22121 for \u03b1-glucosidase, \u03b1-galactosidase A, and \u03b1-l-iduronidase, respectively. Blank values obtained in the absence of blood were 0.13, 0.24, and 0.45 \u03bcmol \u00b7 h\u22121 \u00b7 (L blood)\u22121, respectively). By assaying 3 enzymes at once, problematic samples are spotted for reanalysis if enzyme activity values are low for all enzymes (for example, if insufficient blood is present in the assay).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSIONS<\/jats:title>\n                  <jats:p>This method demonstrates that a triplex assay in a single buffer and with minimal supplies and labor can be adapted to a high-throughput newborn screening laboratory for the analysis of Pompe, Fabry, and mucopolysaccharidosis-I (Hurler) diseases.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1373\/clinchem.2010.152009","type":"journal-article","created":{"date-parts":[[2010,10,13]],"date-time":"2010-10-13T02:47:34Z","timestamp":1286938054000},"page":"1854-1861","source":"Crossref","is-referenced-by-count":58,"title":["A Tandem Mass Spectrometry Triplex Assay for the Detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler)"],"prefix":"10.1093","volume":"56","author":[{"given":"Trisha A","family":"Duffey","sequence":"first","affiliation":[{"name":"Department of Chemistry, University of Washington, Seattle, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garland","family":"Bellamy","sequence":"first","affiliation":[{"name":"the Newborn Screening Laboratory, Washington State Department of Health, Shoreline, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Elliott","sequence":"first","affiliation":[{"name":"the Newborn Screening Laboratory, Washington State Department of Health, Shoreline, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela C","family":"Fox","sequence":"first","affiliation":[{"name":"the Department of Pediatrics and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Glass","sequence":"first","affiliation":[{"name":"the Newborn Screening Laboratory, Washington State Department of Health, Shoreline, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frantisek","family":"Turecek","sequence":"first","affiliation":[{"name":"Department of Chemistry, University of Washington, Seattle, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael H","family":"Gelb","sequence":"first","affiliation":[{"name":"Department of Chemistry, University of Washington, Seattle, WA"},{"name":"Department of Biochemistry, University of Washington, Seattle, WA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C Ronald","family":"Scott","sequence":"first","affiliation":[{"name":"the Department of Pediatrics and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2010,12,1]]},"reference":[{"key":"2020022704415246300_B1","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1373\/clinchem.2003.028381","article-title":"Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease","volume":"50","author":"Li","year":"2004","journal-title":"Clin Chem"},{"key":"2020022704415246300_B2","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":"2020022704415246300_B3","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":"2008","journal-title":"J Inherit Metab Dis"},{"key":"2020022704415246300_B4","doi-asserted-by":"crossref","first-page":"2067","DOI":"10.1373\/clinchem.2008.115410","article-title":"Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I","volume":"54","author":"Blanchard","year":"2008","journal-title":"Clin Chem"},{"key":"2020022704415246300_B5","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1007\/978-1-59745-255-7_10","article-title":"Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening","volume":"359","author":"Turecek","year":"2007","journal-title":"Methods Mol Biol"},{"key":"2020022704415246300_B6","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ymgme.2007.09.006","article-title":"Methods for a prompt and reliable laboratory diagnoisis of Pompe disease: Report from an international consensus meeting","volume":"93","author":"Winchester","year":"2008","journal-title":"Mol Genet Metab"},{"key":"2020022704415246300_B7","first-page":"193","article-title":"Diagnosis of Pompe disease by enzyme assay in dried blood spots","volume":"28","author":"Kallwass","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"2020022704415246300_B8","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":"2020022704415246300_B9","doi-asserted-by":"crossref","first-page":"1624","DOI":"10.1373\/clinchem.2008.107722","article-title":"Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry","volume":"54","author":"Dajnoki","year":"2008","journal-title":"Clin Chem"},{"key":"2020022704415246300_B10","doi-asserted-by":"crossref","first-page":"e39","DOI":"10.1542\/peds.2007-2222","article-title":"Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening 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