{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T22:55:00Z","timestamp":1792018500280,"version":"4.4.0"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,8,26]],"date-time":"2020-08-26T00:00:00Z","timestamp":1598400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["DK067859"],"award-info":[{"award-number":["DK067859"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>GM1\u2010gangliosidosis is a rare autosomal recessive lysosomal storage disease caused by deficiency of \u03b2\u2010galactosidase (GLB1). Newborn screening (NBS) may be warranted in the near future given the initiation of a number of gene therapy clinical trials. Here, we report a tandem mass spectrometry (MS\/MS) enzymatic assay of GLB1 using dried blood spots (DBS), and the demonstration that GLB1 activities in newborn DBS from seven GM1\u2010gangliosidosis patients are well below those measured in random newborn DBS. MS\/MS analysis of two glycan biomarkers, dp5 and A2G2, shows high elevation in newborn DBS from GM1\u2010gangliosidosis compared to the levels in the nonaffected reference range.<\/jats:p>","DOI":"10.1002\/jimd.12269","type":"journal-article","created":{"date-parts":[[2020,6,7]],"date-time":"2020-06-07T13:17:55Z","timestamp":1591535875000},"page":"264-271","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Detection of <scp>GM1\u2010gangliosidosis<\/scp> in newborn dried blood spots by enzyme activity and biomarker assays using tandem mass spectrometry"],"prefix":"10.1002","volume":"44","author":[{"given":"Peiling","family":"Su","sequence":"first","affiliation":[{"name":"Departments of Chemistry University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1319-7039","authenticated-orcid":false,"given":"Hamid","family":"Khaledi","sequence":"additional","affiliation":[{"name":"Departments of Chemistry University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Waggoner","sequence":"additional","affiliation":[{"name":"CUREGM1 Foundation  Albany California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7000-5219","authenticated-orcid":false,"given":"Michael H.","family":"Gelb","sequence":"additional","affiliation":[{"name":"Departments of Chemistry University of Washington  Seattle Washington USA"},{"name":"Departments of Biochemistry University of Washington  Seattle Washington USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2019.100524"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)42862-7"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2019.115142"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0790-9"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.11.2068"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1515\/cclm-2018-1301"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjimd.12269","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12269","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12269","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12269","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T06:25:02Z","timestamp":1692253502000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12269"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8,26]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1002\/jimd.12269"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12269","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,8,26]]},"assertion":[{"value":"2020-03-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-06-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}