{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T09:46:35Z","timestamp":1785836795111,"version":"3.56.0"},"reference-count":14,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T00:00:00Z","timestamp":1775952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T00:00:00Z","timestamp":1775952000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate\u20102\u2010sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed by sequencing of the\n                    <jats:italic>IDS<\/jats:italic>\n                    gene. These diagnostic studies rule out or confirm a diagnosis of MPS II for most cases. However, occasionally, a diagnosis of MPS II remains uncertain following initial diagnostic studies. In this case series, we describe our experience with uncertain diagnoses of MPS II, outline our approach to confirming a diagnosis of MPS II, and emphasize the diagnostic utility of fractionated urine glycosaminoglycans analysis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70152","type":"journal-article","created":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T03:40:42Z","timestamp":1776051642000},"page":"2110-2117","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type\n                    <scp>II<\/scp>\n                    in Four Unrelated Families"],"prefix":"10.1002","volume":"200","author":[{"given":"Carly A.","family":"Rasmussen","sequence":"first","affiliation":[{"name":"Edwards Family Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7633-4205","authenticated-orcid":false,"given":"Monika","family":"Izdebski","sequence":"additional","affiliation":[{"name":"Edwards Family Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Paltzer","sequence":"additional","affiliation":[{"name":"Edwards Family Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Hickey","sequence":"additional","affiliation":[{"name":"Edwards Family Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital  Chicago Illinois USA"},{"name":"Feinberg School of Medicine Northwestern University  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Pollard","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Greenwood Genetics Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Baker","sequence":"additional","affiliation":[{"name":"Edwards Family Division of Genetics and Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital  Chicago Illinois USA"},{"name":"Feinberg School of Medicine Northwestern University  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431\u2010012\u20101703\u2010y"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns6030073"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545\u2010017\u20100075\u2010x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2023.107557"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2018.09.063"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23179979"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21072515"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics10030172"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u20100909\u2010z"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns8040055"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.052"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.11.015"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2020.05.035"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70152","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70152","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70152","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T09:11:04Z","timestamp":1785834664000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70152"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,12]]},"references-count":14,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1002\/ajmg.a.70152"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70152","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,12]]},"assertion":[{"value":"2025-10-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}