{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T16:52:54Z","timestamp":1792515174943,"version":"4.5.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2010,6,2]],"date-time":"2010-06-02T00:00:00Z","timestamp":1275436800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Scheie syndrome is the most attenuated and rarest form of mucopolysaccharidosis type I (MPS I), an inherited lysosomal storage disorder. Only small patient series have previously been reported. Using natural history data from the uniquely large population of 78 Scheie patients enrolled in the MPS I Registry, we characterized the onset and prevalence of clinical manifestations and explored reasons for delayed diagnosis of the disease. Median patient age was 17.5 years; 46% of the patients were male, and 88% were Caucasian. Of 25 MPS I\u2010related clinical features, cardiac valve abnormalities, joint contractures, and corneal clouding were each reported by &gt;80% and all three by 53% of patients. Carpal tunnel syndrome, hernia, coarse facial features, and hepatomegaly were each reported by &gt;50% of patients. Age at onset of the clinical features varied widely between individuals, but the median age at onset was 3 years for hernia and between 5 and 12 years for most features, including coarse facial features, hepatomegaly, joint contractures, bone deformities, cardiac valve abnormalities, cognitive impairment, and corneal clouding. Carpal tunnel syndrome, cardiomyopathy, and myelopathy arose more commonly during adolescence or adulthood. Delays up to 47 years intervened between symptom onset and disease diagnosis, and the longest delays were associated with later age at symptom onset and symptom onset before 1980. In summary, Scheie syndrome usually emerges during childhood, and recognition of attenuated MPS I requires awareness of the multisystemic disease manifestations and their diverse presentation. Given the availability of etiologic treatment, prompt diagnosis is important.<\/jats:p>","DOI":"10.1007\/s10545-010-9113-7","type":"journal-article","created":{"date-parts":[[2010,6,1]],"date-time":"2010-06-01T14:17:42Z","timestamp":1275401862000},"page":"421-427","source":"Crossref","is-referenced-by-count":61,"title":["Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I"],"prefix":"10.1002","volume":"33","author":[{"given":"Janet A.","family":"Thomas","sequence":"first","affiliation":[{"name":"University of Colorado Denver CO USA"},{"name":"Department of Pediatrics University of Colorado 13123 East 16th Avenue, B\u2010153, Mail Stop 8400 Aurora CO 80045 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Beck","sequence":"additional","affiliation":[{"name":"Children's Hospital University of Mainz Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joe T. R.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Hospital for Sick Children Toronto ON Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald F.","family":"Cox","sequence":"additional","affiliation":[{"name":"Genzyme Corporation Cambridge MA USA"},{"name":"Children's Hospital Boston Boston MA USA"},{"name":"Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,6,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.12.024"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2006.02.047"},{"issue":"2","key":"e_1_2_7_4_1","first-page":"196","article-title":"Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome","volume":"24","author":"Cimaz R","year":"2006","journal-title":"Clin Exp Rheumatol"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3847"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-1728"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.10.009"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200101183440304"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-0416"},{"key":"e_1_2_7_11_1","first-page":"3421","volume-title":"The metabolic and molecular bases of inherited disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.01.011"},{"key":"e_1_2_7_13_1","first-page":"753","article-title":"A newly recognized forme fruste of Hurler's disease (gargoylism)","volume":"53","author":"Scheie HG","year":"1962","journal-title":"Am J Ophthalmol"},{"issue":"1","key":"e_1_2_7_14_1","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1542\/peds.57.1.111","article-title":"The iduronidase\u2010deficient mucopolysaccharidoses: clinical and roentgenorgraphic features","volume":"57","author":"Stevenson RE","year":"1976","journal-title":"Pediatrics"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32320"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb02004.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1517\/14656566.6.3.489"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.046"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9113-7","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-010-9113-7","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9113-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T13:32:29Z","timestamp":1694784749000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9113-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,2]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,8]]}},"alternative-id":["10.1007\/s10545-010-9113-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9113-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,2]]}}}