{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T00:36:41Z","timestamp":1769301401826,"version":"3.49.0"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,1,26]]},"DOI":"10.1515\/cclm-2023-0594","type":"journal-article","created":{"date-parts":[[2023,7,18]],"date-time":"2023-07-18T13:40:33Z","timestamp":1689687633000},"page":"e16-e18","source":"Crossref","is-referenced-by-count":3,"title":["Reverse cascade testing from newborn screening: the opportunity to improve family healthcare outcomes"],"prefix":"10.1515","volume":"62","author":[{"given":"Simona","family":"Ferraro","sequence":"first","affiliation":[{"name":"Center of Functional Genomics and Rare Diseases, Newborn Screening Unit, Buzzi Children\u2019s Hospital , Milan , Italy"},{"name":"Department of Pediatrics , Buzzi Children\u2019s Hospital , Milan , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elvira","family":"Verduci","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Buzzi Children\u2019s Hospital , Milan , Italy"},{"name":"Department of Health Sciences , University of Milan , Milan , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gianvincenzo","family":"Zuccotti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Buzzi Children\u2019s Hospital , Milan , Italy"},{"name":"Department of Biomedical and Clinical Sciences , University of Milan , Milan , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilla","family":"Sertori","sequence":"additional","affiliation":[{"name":"Center of Functional Genomics and Rare Diseases, Newborn Screening Unit, Buzzi Children\u2019s Hospital , Milan , Italy"},{"name":"Department of Pediatrics , Buzzi Children\u2019s Hospital , Milan , Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,7,19]]},"reference":[{"key":"2025051113114243213_j_cclm-2023-0594_ref_001","doi-asserted-by":"crossref","unstructured":"Ferraro, S, Cereda, C, Zuccotti, G, Marcovina, S, Plebani, M, Biganzoli, EM. Striving for a pragmatic contribution of biomarkers results to lifelong health care. Clin Chem Lab Med 2023; 17;61:1395-1403.","DOI":"10.1515\/cclm-2022-1294"},{"key":"2025051113114243213_j_cclm-2023-0594_ref_002","doi-asserted-by":"crossref","unstructured":"Cadet, E, Capron, D, Gallet, M, Omanga-L\u00e9k\u00e9, ML, Boutignon, H, Julier, C, et al.. Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases? J Med Genet 2005;42:390\u20135. https:\/\/doi.org\/10.1136\/jmg.2004.027284.","DOI":"10.1136\/jmg.2004.027284"},{"key":"2025051113114243213_j_cclm-2023-0594_ref_003","doi-asserted-by":"crossref","unstructured":"Vinson, A, Guerra, L, Hamilton, L, Wilson, DP. Reverse cascade screening for familial hypercholesterolemia. J Pediatr Nurs 2019;44:50\u20135. https:\/\/doi.org\/10.1016\/j.pedn.2018.09.011.","DOI":"10.1016\/j.pedn.2018.09.011"},{"key":"2025051113114243213_j_cclm-2023-0594_ref_004","doi-asserted-by":"crossref","unstructured":"Demir, N, Koc, A, \u00dcstyol, L, Peker, E, Abuhandan, M. Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment. J Paediatr Child Health 2013;49:820\u20134. https:\/\/doi.org\/10.1111\/jpc.12292.","DOI":"10.1111\/jpc.12292"},{"key":"2025051113114243213_j_cclm-2023-0594_ref_005","doi-asserted-by":"crossref","unstructured":"Flanagan, JL, Simmons, PA, Vehige, J, Willcox, MD, Garrett, Q. Role of carnitine in disease. Nutr Metab (Lond) 2010;7:30. https:\/\/doi.org\/10.1186\/1743-7075-7-30.","DOI":"10.1186\/1743-7075-7-30"},{"key":"2025051113114243213_j_cclm-2023-0594_ref_006","doi-asserted-by":"crossref","unstructured":"Hall, PL, Marquardt, G, McHugh, DMS, Currier, RJ, Tang, H, Stoway, SD, et al.. Postanalytical tools improve performance of newborn screening by tandem mass spectrometry. Genet Med 2014;16:889\u201395. https:\/\/doi.org\/10.1038\/gim.2014.62.","DOI":"10.1038\/gim.2014.62"},{"key":"2025051113114243213_j_cclm-2023-0594_ref_007","doi-asserted-by":"crossref","unstructured":"Ferraro, S, Mozzi, R, Panteghini, M. Tracing a roadmap for vitamin B12 testing using the health technology assessment approach. Clin Chem Lab Med 2014;52:767\u201377. https:\/\/doi.org\/10.1515\/cclm-2013-0738.","DOI":"10.1515\/cclm-2013-0738"},{"key":"2025051113114243213_j_cclm-2023-0594_ref_008","doi-asserted-by":"crossref","unstructured":"Ferraro, S, Biganzoli, G, Calcaterra, V, Zuccotti, G, Biganzoli, EM, Plebani, M. The relevance of establishing method-dependent decision thresholds of serum folate in pregnancy and lactation: when the laboratory stewardship meets the health-care needs. Clin Chem Lab Med 2022;60:1493\u20135. https:\/\/doi.org\/10.1515\/cclm-2022-0501.","DOI":"10.1515\/cclm-2022-0501"},{"key":"2025051113114243213_j_cclm-2023-0594_ref_009","doi-asserted-by":"crossref","unstructured":"El-Hattab, AW, Li, FY, Shen, J, Powell, BR, Bawle, EV, Adams, DJ, et al.. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med 2010;12:19\u201324. https:\/\/doi.org\/10.1097\/gim.0b013e3181c5e6f7.","DOI":"10.1097\/GIM.0b013e3181c5e6f7"},{"key":"2025051113114243213_j_cclm-2023-0594_ref_010","doi-asserted-by":"crossref","unstructured":"Ferraro, S, Biganzoli, E, Castaldi, S, Plebani, M. Health Technology Assessment to get value from biomarkers in the decision making process. Clin Chem Lab Med 2022;60:647\u201354. https:\/\/doi.org\/10.1515\/cclm-2021-1291.","DOI":"10.1515\/cclm-2021-1291"}],"container-title":["Clinical Chemistry and Laboratory Medicine (CCLM)"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/cclm-2023-0594\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/cclm-2023-0594\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,11]],"date-time":"2025-05-11T13:11:49Z","timestamp":1746969109000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyterbrill.com\/document\/doi\/10.1515\/cclm-2023-0594\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,19]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,7,19]]},"published-print":{"date-parts":[[2024,1,26]]}},"alternative-id":["10.1515\/cclm-2023-0594"],"URL":"https:\/\/doi.org\/10.1515\/cclm-2023-0594","relation":{},"ISSN":["1434-6621","1437-4331"],"issn-type":[{"value":"1434-6621","type":"print"},{"value":"1437-4331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,19]]}}}