{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:18:10Z","timestamp":1762507090393,"version":"3.37.3"},"reference-count":35,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2017,6,1]],"date-time":"2017-06-01T00:00:00Z","timestamp":1496275200000},"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\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["R01 DK067859"],"award-info":[{"award-number":["R01 DK067859"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>BACKGROUND<\/jats:title>\n                  <jats:p>We expanded the use of tandem mass spectrometry combined with liquid chromatography (LC-MS\/MS) for multiplex newborn screening of seven lysosomal enzymes in dried blood spots (DBS). The new assays are for enzymes responsible for the mucopolysaccharidoses (MPS-I, -II, -IIIB, -IVA, -VI, and -VII) and type 2 neuronal ceroid lipofuscinosis (LINCL).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>METHODS<\/jats:title>\n                  <jats:p>New substrates were prepared and characterized for tripeptidyl peptidase 1 (TPP1), \u03b1-N-acetylglucosaminidase (NAGLU), and lysosomal \u03b2-glucuronidase (GUSB). These assays were combined with previously developed assays to provide a multiplex LC-MS\/MS assay of 7 lysosomal storage diseases. Multiple reaction monitoring of ion dissociations for enzyme products and deuterium-labeled internal standards was used to quantify the enzyme activities.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS<\/jats:title>\n                  <jats:p>Deidentified DBS samples from 62 nonaffected newborns were analyzed to simultaneously determine (run time 2 min per DBS) the activities of TPP1, NAGLU, and GUSB, along with those for \u03b1-iduronidase (IDUA), iduronate-2-sulfatase (I2S), N-acetylgalactosamine-6-sulfatase (GALNS), and N-acetylgalactosamine-4-sulfatase (ARSB). The activities measured in the 7-plex format showed assay response-to-blank-activity ratios (analytical ranges) of 102\u2013909 that clearly separated healthy infants from affected children.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSIONS<\/jats:title>\n                  <jats:p>The new multiplex assay provides a robust comprehensive newborn screening assay for the mucopolysaccharidoses. The method has been expanded to include additional lysosomal storage diseases.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1373\/clinchem.2016.269167","type":"journal-article","created":{"date-parts":[[2017,4,20]],"date-time":"2017-04-20T20:35:15Z","timestamp":1492720515000},"page":"1118-1126","source":"Crossref","is-referenced-by-count":48,"title":["Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis"],"prefix":"10.1093","volume":"63","author":[{"given":"Yang","family":"Liu","sequence":"first","affiliation":[{"name":"Departments of Chemistry"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Yi","sequence":"first","affiliation":[{"name":"Departments of Chemistry"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arun Babu","family":"Kumar","sequence":"first","affiliation":[{"name":"Departments of 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