{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:13:53Z","timestamp":1792142033210,"version":"4.4.0"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100005614","name":"Biogen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005614","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2017,11]]},"DOI":"10.1016\/j.jpeds.2017.06.042","type":"journal-article","created":{"date-parts":[[2017,7,12]],"date-time":"2017-07-12T06:01:22Z","timestamp":1499839282000},"page":"124-129.e1","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":145,"special_numbering":"C","title":["Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening"],"prefix":"10.1016","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8802-5728","authenticated-orcid":false,"given":"Yin-Hsiu","family":"Chien","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Chuan","family":"Chiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Chin","family":"Weng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ni-Chung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ching-Jie","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wu-Shiun","family":"Hsieh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wang-Tso","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuh-Jyh","family":"Jong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsang-Ming","family":"Ko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuh-Liang","family":"Hwu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2017.06.042_bib0010","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1136\/jmg.15.6.409","article-title":"Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy","volume":"15","author":"Pearn","year":"1978","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0015","doi-asserted-by":"crossref","first-page":"1608","DOI":"10.1002\/ajmg.a.33474","article-title":"Newborn and carrier screening for spinal muscular atrophy","volume":"152A","author":"Prior","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0020","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1006\/nbdi.1996.0010","article-title":"The neurobiology of childhood spinal muscular atrophy","volume":"3","author":"Crawford","year":"1996","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0025","doi-asserted-by":"crossref","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":"10.1016\/j.jpeds.2017.06.042_bib0030","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/0960-8966(94)00075-K","article-title":"Chaos in the classification of SMA: a possible resolution","volume":"5","author":"Dubowitz","year":"1995","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0035","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/0960-8966(94)90094-9","article-title":"The natural history of severe spinal muscular atrophy\u2013further evidence for clinical subtypes","volume":"4","author":"Ignatius","year":"1994","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0040","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1212\/WNL.0000000000000741","article-title":"Observational study of spinal muscular atrophy type I and implications for clinical trials","volume":"83","author":"Finkel","year":"2014","journal-title":"Neurology"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0045","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1212\/01.wnl.0000290830.40544.b9","article-title":"The changing natural history of spinal muscular atrophy type 1","volume":"69","author":"Oskoui","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0050","doi-asserted-by":"crossref","first-page":"8691","DOI":"10.1523\/JNEUROSCI.0417-15.2015","article-title":"Disease mechanisms and therapeutic approaches in spinal muscular atrophy","volume":"35","author":"Tisdale","year":"2015","journal-title":"J Neurosci"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0055","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1212\/WNL.0000000000002445","article-title":"Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy","volume":"86","author":"Chiriboga","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0060","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ana.20473","article-title":"Natural history of denervation in SMA: relation to age, SMN2 copy number, and function","volume":"57","author":"Swoboda","year":"2005","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0065","doi-asserted-by":"crossref","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":"10.1016\/j.jpeds.2017.06.042_bib0070","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<228::AID-HUMU3>3.0.CO;2-9","article-title":"An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)","volume":"15","author":"Wirth","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0075","doi-asserted-by":"crossref","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":"10.1016\/j.jpeds.2017.06.042_bib0080","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/s00439-008-0598-1","article-title":"Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene","volume":"125","author":"Alias","year":"2009","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0085","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy","volume":"70","author":"Feldk\u00f6tter","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0090","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.jns.2011.06.002","article-title":"Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population","volume":"308","author":"Chen","year":"2011","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0095","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.jfma.2012.10.020","article-title":"Incidence of severe combined immunodeficiency through newborn screening in a Chinese population","volume":"114","author":"Chien","year":"2015","journal-title":"J Formos Med Assoc"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0100","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":"10.1016\/j.jpeds.2017.06.042_bib0105","doi-asserted-by":"crossref","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":"10.1016\/j.jpeds.2017.06.042_bib0110","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0017067","article-title":"Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005-2009: a prospective population-based cohort study","volume":"6","author":"Su","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0115","doi-asserted-by":"crossref","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":"10.1016\/j.jpeds.2017.06.042_bib0120","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.1039\/c1lc20126c","article-title":"Multiplex digital PCR: breaking the one target per color barrier of quantitative PCR","volume":"11","author":"Zhong","year":"2011","journal-title":"Lab Chip"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0125","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1097\/GIM.0b013e31803d35bc","article-title":"Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification","volume":"9","author":"Huang","year":"2007","journal-title":"Genet Med"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0130","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.mcp.2010.07.001","article-title":"Quick MLPA test for quantification of SMN1 and SMN2 copy numbers","volume":"24","author":"Passon","year":"2010","journal-title":"Mol Cell Probes"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0135","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0140-6736(95)90732-7","article-title":"PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy","volume":"345","author":"van der Steege","year":"1995","journal-title":"Lancet"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0140","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1007\/s004390000452","article-title":"Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases","volume":"108","author":"Cusc\u00f3","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0145","first-page":"1057","article-title":"Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease","volume":"59","author":"Hahnen","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2017.06.042_bib0150","doi-asserted-by":"crossref","DOI":"10.1038\/gim.2016.215","article-title":"The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing","author":"Feng","year":"2017","journal-title":"Genet Med"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347617308922?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347617308922?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,4,4]],"date-time":"2021-04-04T21:06:41Z","timestamp":1617570401000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347617308922"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":29,"alternative-id":["S0022347617308922"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2017.06.042","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2017,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2017.06.042","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2017.08.016","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2017.06.048","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}