{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T21:39:57Z","timestamp":1783201197238,"version":"3.54.6"},"reference-count":31,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2020,7,2]],"date-time":"2020-07-02T00:00:00Z","timestamp":1593648000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Analysis and Measurement Foundation of Zhejiang Province","award":["LGC19B050013"],"award-info":[{"award-number":["LGC19B050013"]}]},{"name":"National Key Research and Development Program of China","award":["2017YFC1001700"],"award-info":[{"award-number":["2017YFC1001700"]}]},{"name":"National Key Research and Development Program of China","award":["2018YFC1002200"],"award-info":[{"award-number":["2018YFC1002200"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Med Screen"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Determination of methylmalonic acid, 2-methylcitric acid, and total homocysteine in dried blood spots by liquid chromatography\u2013tandem mass spectrometry has usually been used as a second-tier test to improve performance of newborn screening for propionylcarnitine-related disorders. However, factors that potentially affect its detection results have not been investigated, and we aimed to evaluate these influencing factors and explore their potential utility in newborn screening and initial follow-up for propionylcarnitine-related disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>This study comprised a prospective group (1998 healthy infants, to establish cutoff values and investigate the influencing factors) and a retrospective group (804 suspected positive cases screened from 381, 399 newborns for propionylcarnitine-related disorders by tandem mass spectrometry, to evaluate the performance of newborn screening and initial follow-up).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Cutoff values for methylmalonic acid, 2-methylcitric acid, and total homocysteine were 2.12, 0.70, and 10.05\u2009\u00b5mol\/l, respectively. Concentration of methylmalonic acid, 2-methylcitric acid, and total homocysteine in dried blood spots is not impacted by sex, age, birth weight, gestational age, or dried blood spot storage time. A total of 75 of 804 cases were screened positive by combined tandem mass spectrometry and liquid chromatography\u2013tandem mass spectrometry, thus eliminating 90% of the false positives without compromising sensitivity. Eighteen propionylcarnitine-related disorders were successfully identified, including one CblX case missed in the initial follow-up by tandem mass spectrometry.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Methylmalonic acid, 2-methylcitric acid, and total homocysteine detected in dried blood spots by liquid chromatography\u2013tandem mass spectrometry is a reliable, specific, and sensitive approach for identifying propionylcarnitine-related disorders. We recommend this assay should be performed rather than tandem mass spectrometry in follow-up for propionylcarnitine-related disorders besides second-tier tests in newborn screening.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0969141320937725","type":"journal-article","created":{"date-parts":[[2020,7,3]],"date-time":"2020-07-03T02:00:54Z","timestamp":1593741654000},"page":"93-99","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":15,"title":["Determination of methylmalonic acid, 2-methylcitric acid, and total homocysteine in dried blood spots by liquid chromatography\u2013tandem mass spectrometry: A reliable follow-up method for propionylcarnitine-related disorders in newborn screening"],"prefix":"10.1177","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3012-9414","authenticated-orcid":false,"given":"Zhenzhen","family":"Hu","sequence":"first","affiliation":[{"name":"Department of Genetics and Metabolism, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianbin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiming","family":"Lin","sequence":"additional","affiliation":[{"name":"Neonatal Disease Screening Center, Quanzhou Maternity and Children\u2019s Hospital, Quanzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junjuan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Bio-Statistics, Zhejiang University School of Public Health, Hangzhou, China"},{"name":"Zhejiang BiosanBiochemical Technologies Co. Ltd, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingwei","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Zhejiang BiosanBiochemical Technologies Co. Ltd, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinwen","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, The Children\u2019s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,7,2]]},"reference":[{"key":"bibr1-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.23159"},{"key":"bibr2-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2019.03.1622"},{"key":"bibr3-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-0586"},{"key":"bibr4-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.07.009"},{"key":"bibr5-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-2448"},{"key":"bibr6-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0036235"},{"key":"bibr7-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.06.006"},{"key":"bibr8-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.07.018"},{"key":"bibr9-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1039\/C4MB00729H"},{"key":"bibr10-0969141320937725","volume":"9","author":"Guo K","year":"2018","journal-title":"Front Genet"},{"key":"bibr11-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2018.03.011"},{"key":"bibr12-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0130-8"},{"key":"bibr13-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2014.142"},{"key":"bibr14-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/3460902"},{"key":"bibr15-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.09.008"},{"key":"bibr16-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2015.09.012"},{"key":"bibr17-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0892-z"},{"key":"bibr18-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.62"},{"key":"bibr19-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2010.148957"},{"key":"bibr20-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0272-5"},{"key":"bibr21-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0691-y"},{"key":"bibr22-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2007.087775"},{"key":"bibr23-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2014_321"},{"key":"bibr24-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1016\/j.aca.2014.10.043"},{"key":"bibr25-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2016.03.007"},{"key":"bibr26-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1177\/0969141316645824"},{"key":"bibr27-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0184897"},{"key":"bibr28-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1007\/s12325-019-00955-0"},{"key":"bibr29-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1515\/cclm-2017-0270"},{"key":"bibr30-0969141320937725","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2019.07.052"},{"key":"bibr31-0969141320937725","doi-asserted-by":"crossref","first-page":"113","DOI":"10.25100\/cm.v48i3.2180","volume":"48","author":"Cespedes N","year":"2017","journal-title":"Colomb Med"}],"container-title":["Journal of Medical Screening"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0969141320937725","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0969141320937725","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0969141320937725","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T23:24:52Z","timestamp":1777677892000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0969141320937725"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,2]]},"references-count":31,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1177\/0969141320937725"],"URL":"https:\/\/doi.org\/10.1177\/0969141320937725","relation":{},"ISSN":["0969-1413","1475-5793"],"issn-type":[{"value":"0969-1413","type":"print"},{"value":"1475-5793","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,2]]}}}