{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T20:14:17Z","timestamp":1788120857258,"version":"build-2803163510"},"reference-count":28,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,5,1]],"date-time":"2020-05-01T00:00:00Z","timestamp":1588291200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100007747","name":"University of Utah","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007747","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2020,5]]},"DOI":"10.1016\/j.jpeds.2020.01.063","type":"journal-article","created":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T17:18:17Z","timestamp":1583255897000},"page":"193-199","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"special_numbering":"C","title":["Geographic and Specialty Access Disparities in US Pediatric Leukodystrophy Diagnosis"],"prefix":"10.1016","volume":"220","author":[{"given":"Sara","family":"Grineski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle X.","family":"Morales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Wilkes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua L.","family":"Bonkowsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2020.01.063_bib1","doi-asserted-by":"crossref","first-page":"e23579","DOI":"10.4161\/rdis.23579","article-title":"Emergence of pediatric rare diseases: review of present policies and opportunities for improvement","volume":"1","author":"Bavisetty","year":"2013","journal-title":"Rare Dis"},{"key":"10.1016\/j.jpeds.2020.01.063_bib2","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1086\/381053","article-title":"The burden of genetic disease on inpatient care in a children's hospital","volume":"74","author":"McCandless","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2020.01.063_bib3","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1038\/nrd3275","article-title":"Rare diseases, orphan drugs and their regulation: questions and misconceptions","volume":"9","author":"Tambuyzer","year":"2010","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.jpeds.2020.01.063_bib4","doi-asserted-by":"crossref","first-page":"87ps23","DOI":"10.1126\/scitranslmed.3002695","article-title":"Deep sequencing of patient genomes for disease diagnosis: when will it become routine?","volume":"3","author":"Kingsmore","year":"2011","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.jpeds.2020.01.063_bib5","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1038\/gim.0b013e318232a005","article-title":"The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases","volume":"14","author":"Gahl","year":"2012","journal-title":"Genet Med"},{"key":"10.1016\/j.jpeds.2020.01.063_bib6","doi-asserted-by":"crossref","first-page":"2131","DOI":"10.1056\/NEJMoa1714458","article-title":"Effect of genetic diagnosis on patients with previously undiagnosed disease","volume":"379","author":"Splinter","year":"2018","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jpeds.2020.01.063_bib7","doi-asserted-by":"crossref","first-page":"e185031","DOI":"10.1001\/jamanetworkopen.2018.5031","article-title":"Association of diagnosis of leukodystrophy with race and ethnicity among pediatric and adolescent patients","volume":"1","author":"Bonkowsky","year":"2018","journal-title":"JAMA Netw Open"},{"key":"10.1016\/j.jpeds.2020.01.063_bib8","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1055\/s-0034-1386769","article-title":"The leukodystrophies","volume":"34","author":"Gordon","year":"2014","journal-title":"Semin Neurol"},{"key":"10.1016\/j.jpeds.2020.01.063_bib9","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1212\/WNL.0b013e3181eee46b","article-title":"The burden of inherited leukodystrophies in children","volume":"75","author":"Bonkowsky","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.jpeds.2020.01.063_bib10","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1016\/j.jpeds.2012.08.046","article-title":"Determinants of health care use in a population-based leukodystrophy cohort","volume":"162","author":"Nelson","year":"2013","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2020.01.063_bib11","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/j.pcl.2015.03.006","article-title":"Emerging treatments for pediatric leukodystrophies","volume":"62","author":"Helman","year":"2015","journal-title":"Pediatr Clin North Am"},{"key":"10.1016\/j.jpeds.2020.01.063_bib12","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ymgme.2014.12.434","article-title":"A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies","volume":"114","author":"Parikh","year":"2015","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.jpeds.2020.01.063_bib13","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1002\/ana.24650","article-title":"Whole exome sequencing in patients with white matter abnormalities","volume":"79","author":"Vanderver","year":"2016","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jpeds.2020.01.063_bib14","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/ahg.12345","article-title":"Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: diagnostic yield in our first 9 years","volume":"84","author":"Cohen","year":"2020","journal-title":"Ann Hum Genet"},{"key":"10.1016\/j.jpeds.2020.01.063_bib15","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.pediatrneurol.2013.06.006","article-title":"National variation in costs and mortality for leukodystrophy patients in US children's hospitals","volume":"49","author":"Brimley","year":"2013","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.jpeds.2020.01.063_bib16","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1053\/spsu.2002.29367","article-title":"Using a pediatric database to drive quality improvement","volume":"11","author":"Kittle","year":"2002","journal-title":"Semin Pediatr Surg"},{"key":"10.1016\/j.jpeds.2020.01.063_bib17","doi-asserted-by":"crossref","first-page":"31","DOI":"10.3200\/JEXE.75.1.31-65","article-title":"Estimating and using propensity score analysis with complex samples","volume":"75","author":"Hahs-Vaughn","year":"2006","journal-title":"J Exp Edu"},{"key":"10.1016\/j.jpeds.2020.01.063_bib18","series-title":"Hierarchical linear models. Applications and data analysis methods","author":"Raudenbush","year":"2002"},{"key":"10.1016\/j.jpeds.2020.01.063_bib19","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.jpeds.2015.04.068","article-title":"Ways to identify children with medical complexity and the importance of why","volume":"167","author":"Berry","year":"2019","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2020.01.063_bib20","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1186\/1471-2431-14-199","article-title":"Pediatric complex chronic conditions classification system version 2: updated for ICD-10 and complex medical technology dependence and transplantation","volume":"14","author":"Feudtner","year":"2014","journal-title":"BMC Pediatr"},{"key":"10.1016\/j.jpeds.2020.01.063_bib21","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1139\/gen-2016-0077","article-title":"Variance in disease risk: rural populations and genetic diversity","volume":"59","author":"Jenkins","year":"2016","journal-title":"Genome"},{"key":"10.1016\/j.jpeds.2020.01.063_bib22","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1002\/ajmg.1362","article-title":"Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian wars of the nineteenth century","volume":"101","author":"Holve","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpeds.2020.01.063_bib23","doi-asserted-by":"crossref","first-page":"e010342","DOI":"10.1161\/JAHA.118.010342","article-title":"Socioeconomic mediators of racial and ethnic disparities in congenital heart disease outcomes: a population-based study in California","volume":"7","author":"Peyvandi","year":"2018","journal-title":"J Am Heart Assoc"},{"key":"10.1016\/j.jpeds.2020.01.063_bib24","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1111\/chd.12819","article-title":"A model for geographic and sociodemographic access to care disparities for adults with congenital heart disease","volume":"14","author":"Salciccioli","year":"2019","journal-title":"Congenit Heart Dis"},{"key":"10.1016\/j.jpeds.2020.01.063_bib25","doi-asserted-by":"crossref","first-page":"159","DOI":"10.7326\/M17-0188","article-title":"The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial","volume":"167","author":"Vassy","year":"2017","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.jpeds.2020.01.063_bib26","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1186\/s12887-018-1200-1","article-title":"The BabySeq project: implementing genomic sequencing in newborns","volume":"18","author":"Holm","year":"2018","journal-title":"BMC Pediatr"},{"key":"10.1016\/j.jpeds.2020.01.063_bib27","doi-asserted-by":"crossref","first-page":"1630","DOI":"10.1056\/NEJMoa1700554","article-title":"Hematopoietic stem-cell gene therapy for\u00a0cerebral adrenoleukodystrophy","volume":"377","author":"Eichler","year":"2017","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jpeds.2020.01.063_bib28","doi-asserted-by":"crossref","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"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347620301360?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347620301360?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T09:04:48Z","timestamp":1758359088000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347620301360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5]]},"references-count":28,"alternative-id":["S0022347620301360"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2020.01.063","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2020,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Geographic and Specialty Access Disparities in US Pediatric Leukodystrophy Diagnosis","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2020.01.063","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}