{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T16:42:23Z","timestamp":1774543343062,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,7,18]],"date-time":"2022-07-18T00:00:00Z","timestamp":1658102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000098","name":"NIH Clinical Center","doi-asserted-by":"publisher","award":["15\u2010HG\u20100130"],"award-info":[{"award-number":["15\u2010HG\u20100130"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To review the referral and clinical characteristics of adult patients diagnosed with lysosomal storage diseases (LSD) through the Undiagnosed Diseases Network (UDN).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective review of both application and evaluation records for adults admitted to the UDN with a final diagnosis of a lysosomal storage disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ten patients were identified. Final diagnoses included late onset Tay Sachs, attenuated MPS I, MPS IIIA, MPS IIIB, and MPS IIIC. Most patients presented with neurocognitive changes. Prior to referral, all patients had been evaluated by neurology, four patients underwent phenotype specific panel testing that did not include the causative gene, and four patients had non\u2010diagnostic clinical exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>LSDs figure highly in the differential diagnosis of neurometabolic disorders in pediatric onset progressive diseases. In adults, their subtle initial presentations overlap with symptoms of more common disorders and less practitioner awareness may lead to prolonged diagnostic challenges.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2013","type":"journal-article","created":{"date-parts":[[2022,7,18]],"date-time":"2022-07-18T08:43:16Z","timestamp":1658133796000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Adults with lysosomal storage diseases in the undiagnosed diseases network"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9536-3389","authenticated-orcid":false,"given":"Changrui","family":"Xiao","sequence":"first","affiliation":[{"name":"National Human Genome Research Institute  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Koziura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Medical Genetics and Genomic Medicine Vanderbilt University Medical Center  Nashville Tennessee USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidi","family":"Cope","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Genetics Duke University Medical Center  Durham North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Spillman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Genetics Duke University Medical Center  Durham North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khoon","family":"Tan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Genetics Duke University Medical Center  Durham North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuki M.","family":"Hisama","sequence":"additional","affiliation":[{"name":"Department of Medicine Division of Medical Genetics University of Washington School of Medicine  Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia J.","family":"Tifft","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilo","family":"Toro","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,18]]},"reference":[{"key":"e_1_2_12_2_1","article-title":"Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder","volume":"2013","author":"Brady J.","year":"2013","journal-title":"Case Reports"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e318232a005"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0548-5"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.3233\/TRD-190045"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2013.04.007"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2017.01.011"},{"key":"e_1_2_12_8_1","first-page":"1","article-title":"Lysosomal storage diseases","volume":"4","author":"Platt F. M.","year":"2018","journal-title":"Nature Reviews Disease Primers"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.2016150168"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cts.12512"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2013","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.2013","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2013","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,15]],"date-time":"2024-07-15T06:51:21Z","timestamp":1721026281000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,18]]},"references-count":9,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1002\/mgg3.2013"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2013","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,18]]},"assertion":[{"value":"2021-09-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-06-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2013"}}