{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T00:07:37Z","timestamp":1793837257557,"version":"4.6.1"},"reference-count":16,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T00:00:00Z","timestamp":1694044800000},"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. Neurol."],"abstract":"<jats:p>The FAME registry gathers the majority of patients with SMA in Argentina. From it, the clinical, sociodemographic and access to treatment characteristics were analyzed in 322 patients (range 8\u2009months-61\u2009years) included from 2008 to 2021. Important data were obtained for the planning of medical care of these patients such as: similar distribution of patient care in public and private hospitals, time gap between onset of symptoms and diagnoses, low level of completion of <jats:italic>SMN2<\/jats:italic> copy count, estimate of 16 new diagnoses per year between 2014 and 2018, and 68% of patient in specific pharmacological treatment.<\/jats:p>","DOI":"10.3389\/fneur.2023.1179692","type":"journal-article","created":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T22:08:53Z","timestamp":1694124533000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Sociodemographic and clinical characteristics and access to health care in patients with spinal muscular atrophy in Argentina"],"prefix":"10.3389","volume":"14","author":[{"given":"Gabriel Adolfo","family":"Vazquez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salom\u00e9","family":"Nasif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebasti\u00e1n","family":"Marciano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanina","family":"Pagotto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,9,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal muscular atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol Clin"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1007\/s11910-017-0798-y","article-title":"Treatment advances in spinal muscular atrophy","volume":"17","author":"Bharucha-Goebel","year":"2017","journal-title":"Curr Neurol Neurosci Rep"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics","volume":"28","author":"Finkel","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/s13023-019-0998-4","article-title":"SMArtCARE-A platform to collect real-life outcome data of patients with spinal muscular atrophy","volume":"14","author":"Pechman","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"167","DOI":"10.3233\/JND-170292","article-title":"An overview of the Cure SMA membership database: highlights of key demographic and clinical characteristics of SMA members","volume":"5","author":"Belter","year":"2018","journal-title":"J Neuromuscular Diseases"},{"key":"ref7","volume-title":"Familias AME Argentina","year":"2023"},{"key":"ref8","year":"2020"},{"key":"ref9","year":"2020"},{"key":"ref10","year":"2022"},{"key":"ref11","year":"2011"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1016\/j.nmd.2021.03.007","article-title":"Newborn screening programs for spinal muscular atrophy worldwide: where we stand and where to go","volume":"31","author":"Dangouloff","year":"2021","journal-title":"Neuromuscul Disord"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"910","DOI":"10.1016\/j.ejpn.2016.07.017","article-title":"Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina","volume":"20","author":"Medrano","year":"2016","journal-title":"Eur J Paediatr Neurol"},{"key":"ref14","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 review","volume":"53","author":"Chia-Wei","year":"2015","journal-title":"Pediatr Neurol"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.jpeds.2012.05.067","article-title":"Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy","volume":"162","author":"Farrar","year":"2013","journal-title":"J Pediatr"},{"key":"ref16","year":"2020"}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2023.1179692\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T08:39:25Z","timestamp":1697186365000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2023.1179692\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,7]]},"references-count":16,"alternative-id":["10.3389\/fneur.2023.1179692"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2023.1179692","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,7]]},"article-number":"1179692"}}