{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T18:21:24Z","timestamp":1789928484577,"version":"4.0.1"},"reference-count":0,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Pediatric Rehabilitation Medicine"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:p>An Erratum for this article can be found here:\n\t\t\t http:\/\/iospress.metapress.com\/content\/e16437020701m0u5\/?p=df8dd6709cf44367a0c0e5d917aaeddf&amp;pi=11<\/jats:p>\n                  <jats:p>We describe the cases of two adult sisters recently diagnosed with\n\t\t\t the attenuated form of mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy\n\t\t\t syndrome). MPS VI is a rare, clinically heterogeneous lysosomal storage\n\t\t\t disorder that is characterized by a deficiency in the\n\t\t\t glycosaminoglycan-degrading enzyme arylsulfatase B. Both cases had been\n\t\t\t misdiagnosed for over 30 years despite the presence of several characteristics\n\t\t\t of the disease, including short stature (mild), coarse facial features,\n\t\t\t skeletal dysmorphisms, carpal tunnel syndrome, heart valve disease, and spinal\n\t\t\t cord compression, which together are suggestive of a lysosomal storage disease.\n\t\t\t Awareness about the clinical features of MPS VI should be communicated amongst\n\t\t\t treating neurologists, rheumatologists and other specialists who are involved\n\t\t\t in the healthcare decisions of these patients with presenting symptoms, so they\n\t\t\t can refer them to specialized centers for proper diagnosis and treatment.<\/jats:p>\n                  <jats:p\/>","DOI":"10.3233\/prm-2010-0104","type":"journal-article","created":{"date-parts":[[2019,12,3]],"date-time":"2019-12-03T17:07:02Z","timestamp":1575392822000},"page":"71-75","source":"Crossref","is-referenced-by-count":17,"title":["Difficulties in diagnosing slowly progressive\t\t\t mucopolysaccharidosis VI: A case series"],"prefix":"10.1177","volume":"3","author":[{"given":"Maurizio","family":"Scarpa","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Padova,\r\t\t\t Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebba","family":"Buffone","sequence":"additional","affiliation":[{"name":"Department of Neurology, Central Hospital, Bolzano,\r\t\t\t Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philipp La","family":"Marca","sequence":"additional","affiliation":[{"name":"Department of Physical and Rehabilitation Medicine,\r\t\t\t Hospital of Malcesine, Malcesine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauro","family":"Campello","sequence":"additional","affiliation":[{"name":"Neurosurgical Department, Bolzano General Hospital,\r\t\t\t Bolzano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica","family":"Rampazzo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Padova,\r\t\t\t Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,1]]},"container-title":["Journal of Pediatric Rehabilitation Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/PRM-2010-0104","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.3233\/PRM-2010-0104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T04:38:15Z","timestamp":1777610295000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.3233\/PRM-2010-0104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["10.3233\/PRM-2010-0104"],"URL":"https:\/\/doi.org\/10.3233\/prm-2010-0104","relation":{},"ISSN":["1874-5393","1875-8894"],"issn-type":[{"value":"1874-5393","type":"print"},{"value":"1875-8894","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1]]}}}