{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:23:44Z","timestamp":1790814224338,"version":"4.1.0"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100019013","name":"Changchun Science and Technology Planning Project","doi-asserted-by":"publisher","award":["202102010227"],"award-info":[{"award-number":["202102010227"]}],"id":[{"id":"10.13039\/501100019013","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2024,1]]},"DOI":"10.1016\/j.cca.2023.117653","type":"journal-article","created":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T18:40:33Z","timestamp":1700073633000},"page":"117653","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"special_numbering":"C","title":["A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population"],"prefix":"10.1016","volume":"552","author":[{"given":"Chengfang","family":"Tang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanna","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minyi","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sichi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Xie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7527-3754","authenticated-orcid":false,"given":"Yonglan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2023.117653_b0005","doi-asserted-by":"crossref","DOI":"10.3390\/ijns8020024","article-title":"Newborn screening for X-linked adrenoleukodystrophy: review of data and outcomes in Pennsylvania","volume":"8","author":"Priestley","year":"2022","journal-title":"Int. J. Neonatal. Screen."},{"key":"10.1016\/j.cca.2023.117653_b0010","first-page":"686","article-title":"Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)","volume":"22","author":"De Biase","year":"2020","journal-title":"GeneticsMed. :. Off. J. Am. College. Med. Genet."},{"key":"10.1016\/j.cca.2023.117653_b0015","doi-asserted-by":"crossref","DOI":"10.3390\/cells11020283","article-title":"Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy","volume":"11","author":"Mallack","year":"2022","journal-title":"Cells."},{"key":"10.1016\/j.cca.2023.117653_b0020","first-page":"1","article-title":"Patrick Aubourg and Bwee Tien Poll-The, X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management","volume":"51","author":"Marc Engelen","year":"2012","journal-title":"Orphanet. J. Rare. Dis."},{"key":"10.1016\/j.cca.2023.117653_b0025","first-page":"1465","article-title":"X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects","volume":"2012","author":"Kemp","year":"1822","journal-title":"Biochim. Biophys. Acta."},{"key":"10.1016\/j.cca.2023.117653_b0030","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.bbmt.2018.09.036","article-title":"Survival and Functional Outcomes in Boys with Cerebral Adrenoleukodystrophy with and without Hematopoietic Stem Cell Transplantation","volume":"25","author":"Raymond","year":"2019","journal-title":"Biol. Blood. Marrow. Transplant."},{"key":"10.1016\/j.cca.2023.117653_b0035","doi-asserted-by":"crossref","first-page":"1971","DOI":"10.1182\/blood-2011-01-329235","article-title":"Outcomes after allogeneic hematopoietic cell transplantation for childhood cerebral adrenoleukodystrophy: the largest single-institution cohort report","volume":"118","author":"Miller","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.cca.2023.117653_b0040","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.ymgme.2015.02.002","article-title":"Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines","volume":"114","author":"Vogel","year":"2015","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.cca.2023.117653_b0045","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1002\/jimd.12356","article-title":"MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines","volume":"44","author":"Mallack","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.cca.2023.117653_b0050","doi-asserted-by":"crossref","DOI":"10.3390\/ijns2040015","article-title":"Newborn Screening for X-Linked Adrenoleukodystrophy","volume":"2","author":"Moser","year":"2016","journal-title":"Int. J. Neonatal. Screen."},{"key":"10.1016\/j.cca.2023.117653_b0055","first-page":"121","article-title":"Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation, Genetics in medicine : official journal of the American College of Medical","volume":"19","author":"Kemper","year":"2017","journal-title":"Genetics"},{"key":"10.1016\/j.cca.2023.117653_b0060","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1016\/j.ymgme.2017.10.012","article-title":"Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy","volume":"122","author":"Huffnagel","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.cca.2023.117653_b0065","doi-asserted-by":"crossref","first-page":"690","DOI":"10.3389\/fcell.2020.00690","article-title":"Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders","volume":"8","author":"Jaspers","year":"2020","journal-title":"Front. Cell. Dev. Biol."},{"key":"10.1016\/j.cca.2023.117653_b0070","doi-asserted-by":"crossref","DOI":"10.3390\/ijns8010006","article-title":"Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience","volume":"8","author":"Burton","year":"2022","journal-title":"Int. J. Neonatal. Screen."},{"key":"10.1016\/j.cca.2023.117653_b0075","doi-asserted-by":"crossref","first-page":"499","DOI":"10.3389\/fcell.2020.00499","article-title":"Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor","volume":"8","author":"Barendsen","year":"2020","journal-title":"Front. Cell. Dev. Biol."},{"key":"10.1016\/j.cca.2023.117653_b0080","article-title":"High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan","volume":"32","author":"Chen","year":"2022","journal-title":"Mol. Genet. Metab. Rep."},{"key":"10.1016\/j.cca.2023.117653_b0085","doi-asserted-by":"crossref","first-page":"1072256","DOI":"10.3389\/fneur.2022.1072256","article-title":"Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring","volume":"13","author":"Bonaventura","year":"2022","journal-title":"Front. Neurol."},{"key":"10.1016\/j.cca.2023.117653_b0090","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.cca.2018.07.007","article-title":"Liquid chromatography-tandem mass spectrometry method for estimation of a panel of lysophosphatidylcholines in dried blood spots for screening of X-linked adrenoleukodystrophy","volume":"485","author":"Natarajan","year":"2018","journal-title":"Clinica chimica acta; Int. J. Clin. Chem."},{"key":"10.1016\/j.cca.2023.117653_b0095","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.cca.2020.01.016","article-title":"Evaluation of a panel of very long-chain lysophosphatidylcholines and acylcarnitines for screening of X-linked adrenoleukodystrophy in China","volume":"503","author":"Tian","year":"2020","journal-title":"Clinica. chimica. acta;. international. journal. of. clinical. chemistry."},{"key":"10.1016\/j.cca.2023.117653_b0100","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1002\/humu.24222","article-title":"Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study","volume":"42","author":"Zhai","year":"2021","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cca.2023.117653_b0105","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genetics Med.: Off. J. Am. College Med. Genetics"},{"key":"10.1016\/j.cca.2023.117653_b0110","first-page":"102","article-title":"Sheng Huiying, Liu Li, Analysis of the relationship between the level of very long chain fatty acid and ABCD1 gene mutation in X-linked adrenaldystrophy patients","volume":"41","author":"Cai Yanna","year":"2018","journal-title":"Int. J. Genet."},{"key":"10.1016\/j.cca.2023.117653_b0115","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s10545-017-0064-0","article-title":"Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders","volume":"40","author":"Klouwer","year":"2017","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.cca.2023.117653_b0120","doi-asserted-by":"crossref","DOI":"10.3390\/ijns7020022","article-title":"Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up","volume":"7","author":"Matteson","year":"2021","journal-title":"Int. J. Neonatal. Screen."},{"key":"10.1016\/j.cca.2023.117653_b0125","doi-asserted-by":"crossref","DOI":"10.3390\/ijns6040081","article-title":"Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns","volume":"6","author":"Hall","year":"2020","journal-title":"Int. J. Neonatal. Screen."},{"key":"10.1016\/j.cca.2023.117653_b0130","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1016\/j.cca.2012.03.026","article-title":"Improved analysis of C26:0-lysophosphatidylcholine in dried-blood spots via negative ion mode HPLC-ESI-MS\/MS for X-linked adrenoleukodystrophy newborn screening","volume":"413","author":"Haynes","year":"2012","journal-title":"Clinica chimica acta; Int. J. Clin. Chem."},{"key":"10.1016\/j.cca.2023.117653_b0135","doi-asserted-by":"crossref","first-page":"1205","DOI":"10.1002\/ajmg.a.61171","article-title":"A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy","volume":"179","author":"Wiens","year":"2019","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.cca.2023.117653_b0140","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/humu.9356","article-title":"Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms","volume":"26","author":"Maxwell","year":"2005","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.cca.2023.117653_b0145","doi-asserted-by":"crossref","first-page":"1565","DOI":"10.1038\/ejhg.2016.62","article-title":"Spectrum of PEX1 and PEX6 variants in Heimler syndrome","volume":"24","author":"Smith","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.cca.2023.117653_b0150","doi-asserted-by":"crossref","first-page":"42","DOI":"10.3390\/ijns5040042","article-title":"Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California","volume":"5","author":"Schwan","year":"2019","journal-title":"Int. J. Neonatal. Screen."}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898123004552?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898123004552?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T20:05:12Z","timestamp":1762113912000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898123004552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":30,"alternative-id":["S0009898123004552"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2023.117653","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2024,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese population","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2023.117653","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"117653"}}