{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T15:10:20Z","timestamp":1780672220497,"version":"3.54.1"},"reference-count":32,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T00:00:00Z","timestamp":1576540800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"DOI":"10.3389\/fgene.2019.01255","type":"journal-article","created":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T00:15:35Z","timestamp":1576541735000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":36,"title":["Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry"],"prefix":"10.3389","volume":"10","author":[{"given":"Yiming","family":"Lin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chien-Hsing","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoshan","family":"Yin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianbin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuyan","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiju","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xigui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haili","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingqing","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueqin","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenzhen","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chenggang","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinwen","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2019,12,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"774","DOI":"10.1016\/j.braindev.2017.04.015","article-title":"Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA","volume":"39","author":"Ar Rochmah","year":"2017","journal-title":"Brain Dev."},{"key":"B2","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/j.nmd.2018.01.003","article-title":"Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases","volume":"28","author":"Calucho","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"B3","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1038\/ng.659","article-title":"High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency","volume":"42","author":"Calvo","year":"2010","journal-title":"Nat. Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1038\/ng854","article-title":"Disruption of an SF2\/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1","volume":"30","author":"Cartegni","year":"2002","journal-title":"Nat. Genet."},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.06.042","article-title":"Presymptomatic diagnosis of spinal muscular atrophy through newborn screening","volume":"190","author":"Chien","year":"2017","journal-title":"J. Pediatr."},{"key":"B6","doi-asserted-by":"publisher","first-page":"1033","DOI":"10.1373\/clinchem.2012.183038","article-title":"Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling","volume":"58","author":"Dobrowolski","year":"2012","journal-title":"Clin. Chem."},{"key":"B7","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1016\/j.pcl.2018.12.007","article-title":"The current state of newborn screening in the United States","volume":"66","author":"Fabie","year":"2019","journal-title":"Pediatr. Clin. North Am."},{"key":"B8","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"B9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/0471142905.hg0212s60","article-title":"SNP genotyping using the Sequenom MassARRAY iPLEX platform","volume":"12","author":"Gabriel","year":"2009","journal-title":"Curr. Protoc. Hum. Chapter 2"},{"key":"B10","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1111\/dmcn.14027","article-title":"Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps","volume":"61","author":"Gidaro","year":"2019","journal-title":"Dev. Med. Child Neurol."},{"key":"B11","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1385\/MB:26:2:147","article-title":"MALDI-TOF mass spectrometry: a versatile tool for high-performance DNA analysis","volume":"26","author":"Jurinke","year":"2004","journal-title":"Mol. Biotechnol."},{"key":"B12","doi-asserted-by":"publisher","first-page":"468","DOI":"10.21037\/atm.2018.11.68","article-title":"Newborn screening and changing face of inborn errors of metabolism in the United States","volume":"6","author":"Kanungo","year":"2018","journal-title":"Ann. Transl. Med."},{"key":"B13","first-page":"E78","article-title":"SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test","volume":"60","author":"Kato","year":"2015","journal-title":"Kobe J. Med. Sci."},{"key":"B14","doi-asserted-by":"publisher","first-page":"2019","DOI":"10.1007\/s12519-019-00242-6","article-title":"Progress in treatment and newborn screening for Duchenne muscular dystrophy and spinal muscular atrophy","volume":"15","author":"Ke","year":"2019","journal-title":"World J. Pediatr."},{"key":"B15","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1002\/ana.25101","article-title":"Natural history of infantile-onset spinal muscular atrophy","volume":"82","author":"Kolb","year":"2017","journal-title":"Ann. Neurol."},{"key":"B16","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1038\/gim.2017.152","article-title":"Pilot study of population-based newborn screening for spinal muscular atrophy in New York state","volume":"20","author":"Kraszewski","year":"2018","journal-title":"Genet. Med."},{"key":"B17","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterization of a spinal muscular atrophy-determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"B18","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1038\/ng0797-265","article-title":"Correlation between severity and SMN protein level in spinal muscular atrophy","volume":"16","author":"Lefebvre","year":"1997","journal-title":"Nat. Genet."},{"key":"B19","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1016\/j.pediatrneurol.2015.06.002","article-title":"Delay in diagnosis of spinal muscular atrophy: a systematic literature review","volume":"53","author":"Lin","year":"2015","journal-title":"Pediatr. Neurol."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/s10038-017-0366-y","article-title":"Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry","volume":"63","author":"Lu","year":"2018","journal-title":"J. Hum. Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1097\/00125817-200201000-00004","article-title":"Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2","volume":"4","author":"Mailman","year":"2002","journal-title":"Genet. Med."},{"key":"B22","doi-asserted-by":"publisher","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"B23","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1515\/tnsci-2017-0001","article-title":"ISS-N1 makes the First FDA-approved drug for spinal muscular atrophy","volume":"8","author":"Ottesen","year":"2017","journal-title":"Transl. Neurosci."},{"key":"B24","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1053\/j.semperi.2015.03.006","article-title":"Newborn screening for spinal muscular atrophy: Anticipating an imminent need","volume":"39","author":"Phan","year":"2015","journal-title":"Semin. Perinatol."},{"key":"B25","doi-asserted-by":"publisher","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","article-title":"Newborn and carrier screening for spinal muscular atrophy","author":"Prior","year":"2010","journal-title":"Am. J. Med. Genet. A."},{"key":"B26","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1097\/01.gim.0000227970.60450.b2","article-title":"A feasibility study for the newborn screening of spinal muscular atrophy","volume":"8","author":"Pyatt","year":"2006","journal-title":"Genet. Med."},{"key":"B27","doi-asserted-by":"publisher","first-page":"1879","DOI":"10.1373\/clinchem.2007.092312","article-title":"Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy","volume":"53","author":"Pyatt","year":"2007","journal-title":"Clin. Chem."},{"key":"B28","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1002\/acn3.689","article-title":"Novel challenges in spinal muscular atrophy - How to screen and whom to treat?","volume":"6","author":"Saffari","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"B29","doi-asserted-by":"publisher","first-page":"412","DOI":"10.1373\/clinchem.2014.231019","article-title":"Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency","volume":"61","author":"Taylor","year":"2015","journal-title":"Clin. Chem."},{"key":"B30","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1007\/s00415-017-8549-1","article-title":"A multi-source approach to determine SMA incidence and research ready population","volume":"264","author":"Verhaart","year":"2017","journal-title":"J. Neurol."},{"key":"B31","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review","volume":"12","author":"Verhaart","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"B32","doi-asserted-by":"publisher","first-page":"1753","DOI":"10.1373\/clinchem.2018.293712","article-title":"Multiplex droplet digital pcr method applicable to newborn screening, carrier status, and assessment of spinal muscular atrophy","volume":"64","author":"Vidal-Folch","year":"2018","journal-title":"Clin. Chem."}],"container-title":["Frontiers in Genetics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.01255\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T00:15:38Z","timestamp":1576541738000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fgene.2019.01255\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,17]]},"references-count":32,"alternative-id":["10.3389\/fgene.2019.01255"],"URL":"https:\/\/doi.org\/10.3389\/fgene.2019.01255","relation":{},"ISSN":["1664-8021"],"issn-type":[{"value":"1664-8021","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,17]]},"article-number":"1255"}}