{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T10:09:22Z","timestamp":1779962962428,"version":"3.53.1"},"reference-count":25,"publisher":"Charles University in Prague, Karolinum Press","issue":"4","license":[{"start":{"date-parts":[[2020,2,10]],"date-time":"2020-02-10T00:00:00Z","timestamp":1581292800000},"content-version":"vor","delay-in-days":405,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,10]],"date-time":"2020-02-10T00:00:00Z","timestamp":1581292800000},"content-version":"tdm","delay-in-days":405,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["actamedica.lfhk.cuni.cz"],"crossmark-restriction":true},"short-container-title":["Acta Med. (Hradec Kralove, Czech Repub.)"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>Mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders. The underlying mechanism of MPS disorders are deficiency in specific enzymes which leads to accumulation of partially degraded glycosaminoglycans (GAGs) in various tissues. A wide variety of manifestations are reported but musculoskeletal complaints are common among them. In milder forms of MPS, musculoskeletal complaints are presenting symptoms. Delays in diagnosis due to unspecific and mild symptoms is common. Misdiagnosis of MPS as juvenile idiopathic arthritis and other inflammatory arthritis disorders is frequent. Early diagnosis and treatment prevents irreversible cellular damages and is a key factor in efficacy of enzyme replacement therapy. In this study we described two MPS patients with musculoskeletal complaints who were not diagnosed for a period of time. Although musculoskeletal manifestation are common in a variety of clinical conditions, their presence at low ages or co-occurrence of other manifestations (such as cardiac, respiratory, neurologic, etc.) in multiple systems should prompt evaluation of patients for MPS and other metabolic disorders. The rheumatologists\u2019 awareness on MPS should be promoted to achieve timely diagnosis and subsequent early treatment.<\/jats:p>","DOI":"10.14712\/18059694.2020.6","type":"journal-article","created":{"date-parts":[[2020,2,10]],"date-time":"2020-02-10T04:09:16Z","timestamp":1581307756000},"page":"161-165","update-policy":"https:\/\/doi.org\/10.14712\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Mucopolysaccharidosis Type I in Children, a Forgotten Diagnosis Responsible for Undiagnosed Musculoskeletal Complaints: Report of Two Cases"],"prefix":"10.14712","volume":"62","author":[{"given":"Soheila Hoseinzadeh","family":"Moghadam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masood","family":"Ghahvechi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Mozafari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Sayarifard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahdieh-Sadat","family":"Mousavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Rostami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vahid","family":"Ziaee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5727","published-online":{"date-parts":[[2020,2,10]]},"reference":[{"key":"18059694.2020.6_1","unstructured":"Neufeld EU, Muenzer J. The mucopolysaccharidoses. In: Scriver CR (ed). The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001; p. 3421\u201352."},{"key":"18059694.2020.6_2","doi-asserted-by":"crossref","first-page":"v4","DOI":"10.1093\/rheumatology\/ker394","volume":"50","author":"Muenzer","year":"2011","journal-title":"Rheumatology (Oxford)"},{"key":"18059694.2020.6_3","doi-asserted-by":"crossref","first-page":"v19","DOI":"10.1093\/rheumatology\/ker397","volume":"50","author":"Morishita","year":"2011","journal-title":"Rheumatology (Oxford)"},{"key":"18059694.2020.6_4","first-page":"390","volume":"31","author":"Petty","year":"2004","journal-title":"J Rheumatol"},{"key":"18059694.2020.6_5","unstructured":"Rosenthal J. Hematopoietic cell transplantation for storage diseases. In: Forman SJ, Negrin RS, Antin JH, Appelbaum FR (eds). Thomas\u2019 Hematopoietic Cell Transplantation: Stem Cell Transplantation. 5th Ed. 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