{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:35:13Z","timestamp":1790710513028,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,4,17]],"date-time":"2020-04-17T00:00:00Z","timestamp":1587081600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD081355"],"award-info":[{"award-number":["R01HD081355"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005326","name":"Yale University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005326","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":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Newborn screening (NBS) programmes utilise information on a variety of clinical variables such as gestational age, sex, and birth weight to reduce false\u2010positive screens for inborn metabolic disorders. Here we study the influence of ethnicity on metabolic marker levels in a diverse newborn population. NBS data from screen\u2010negative singleton babies (n = 100\u2009000) were analysed, which included blood metabolic markers measured by tandem mass spectrometry and ethnicity status reported by the parents. Metabolic marker levels were compared between major ethnic groups (Asian, Black, Hispanic, White) using effect size analysis, which controlled for group size differences and influence from clinical variables. Marker level differences found between ethnic groups were correlated to NBS data from 2532 false\u2010positive cases for four metabolic diseases: glutaric acidemia type 1 (GA\u20101), methylmalonic acidemia (MMA), ornithine transcarbamylase deficiency (OTCD), and very long\u2010chain acyl\u2010CoA dehydrogenase deficiency (VLCADD). In the result, 79% of the metabolic markers (34 of 43) had ethnicity\u2010related differences. Compared to the other groups, Black infants had elevated GA\u20101 markers (C5DC, Cohen's <jats:italic>d<\/jats:italic> =\u2009.37, <jats:italic>P<\/jats:italic> &lt;\u2009.001), Hispanics had elevated MMA markers (C3, Cohen's <jats:italic>d<\/jats:italic> =\u2009.13, <jats:italic>P<\/jats:italic> &lt;\u2009.001, and C3\/C2, Cohen's <jats:italic>d<\/jats:italic> =\u2009.27, <jats:italic>P<\/jats:italic> &lt;\u2009.001); and Whites had elevated VLCADD markers (C14, Cohen's <jats:italic>d<\/jats:italic> =\u2009.28, <jats:italic>P<\/jats:italic> &lt;\u2009.001, and C14:1, Cohen's <jats:italic>d<\/jats:italic> =\u2009.22, <jats:italic>P<\/jats:italic> &lt;\u2009.001) and decreased OTCD markers (citrulline, Cohen's <jats:italic>d<\/jats:italic> =\u2009\u2212.26, <jats:italic>P<\/jats:italic> &lt;\u2009.001). These findings correlated with the higher false\u2010positive rates in Black infants for GA\u20101, in Hispanics for MMA, and in Whites for OTCD and for VLCADD. Web\u2010based tools are available to analyse ethnicity\u2010related changes in newborn metabolism and to support developing methods to identify false\u2010positives in metabolic screening.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12236","type":"journal-article","created":{"date-parts":[[2020,3,26]],"date-time":"2020-03-26T14:17:16Z","timestamp":1585232236000},"page":"934-943","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Ethnic variability in newborn metabolic screening markers associated with false\u2010positive outcomes"],"prefix":"10.1002","volume":"43","author":[{"given":"Gang","family":"Peng","sequence":"first","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut USA"},{"name":"Department of Biostatistics Yale University School of Public Health  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yishuo","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neeru","family":"Gandotra","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory M.","family":"Enns","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Stanford University School of Medicine  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina M.","family":"Cowan","sequence":"additional","affiliation":[{"name":"Department of Pathology Stanford University School of Medicine  Stanford California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongyu","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut USA"},{"name":"Department of Biostatistics Yale University School of Public Health  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6322-2039","authenticated-orcid":false,"given":"Curt","family":"Scharfe","sequence":"additional","affiliation":[{"name":"Department of Genetics Yale University School of Medicine  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31820d5e67"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.290.19.2564"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0691-y"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.20007"},{"key":"e_1_2_9_6_1","volume-title":"GeneReviews","author":"Manoli I","year":"1993"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.05.007"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12031"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.2"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.190"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.194"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.09.082"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2012-1219"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2012.09.013"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.62"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-0329"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.11.006"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20824"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0067-0"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns3030025"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-1822"},{"issue":"5","key":"e_1_2_9_22_1","first-page":"S296","article-title":"Newborn screening: toward a uniform screening panel and system\u2014executive summary","volume":"117","author":"American College of Medical Genetics Newborn Screening Expert Group","year":"2006","journal-title":"Pediatrics"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/ije\/dyg238"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12884-014-0385-z"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-0943"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2013.6235"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/aje\/kwk071"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.76"},{"key":"e_1_2_9_29_1","unstructured":"Newborn Screening Process. Health Resources & Service Administration.https:\/\/mchb.hrsa.gov\/maternal-child-health-initiatives\/newborn-screening\/process. Accessed December 1 2019."},{"key":"e_1_2_9_30_1","volume-title":"R: A Language and Environment for Statistical Computing","author":"R\u2010Core\u2010Team","year":"2019"},{"key":"e_1_2_9_31_1","volume-title":"Statistical Power Analysis for the Behavioral Sciences","author":"Cohen J","year":"1988"},{"key":"e_1_2_9_32_1","first-page":"1512","article-title":"Mathematics of a lady tasting tea","volume":"3","author":"Fisher RA","year":"1956","journal-title":"World Mat"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1986.03370010054024"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jp.7210703"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep46657"},{"issue":"8","key":"e_1_2_9_36_1","first-page":"1","article-title":"Births: final data for 2017","volume":"67","author":"Martin JA","year":"2018","journal-title":"Natl Vital Stat Rep"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2019.3678"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.108.3.624"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2009.10.864"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20258"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.04.001"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.06.011"},{"key":"e_1_2_9_43_1","unstructured":"National Center for Health Statistics;2014.https:\/\/www.cdc.gov\/nchs\/pressroom\/states\/california\/california.htm. Accessed November 28 2019."}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjimd.12236","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12236","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jimd.12236","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12236","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T02:36:28Z","timestamp":1692671788000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12236"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,17]]},"references-count":42,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["10.1002\/jimd.12236"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12236","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,17]]},"assertion":[{"value":"2019-12-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-03-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}