{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T11:54:27Z","timestamp":1782215667517,"version":"3.54.5"},"reference-count":27,"publisher":"Walter de Gruyter GmbH","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0665_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Musculoskeletal abnormalities are common to mucopolysaccharidoses (MPS) and can negatively affect the patient\u2019s quality of life. Data on course of musculoskeletal findings of MPS type IVA and VI are very insufficient. This study aimed to document the effect of regular enzyme replacement therapy (ERT) on musculoskeletal system and quality of\u00a0life.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0665_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Patients diagnosed with MPS type IVA and VI aged\u22655\u00a0years who were observed in the paediatric metabolic diseases\u2019 outpatient clinic and physical medicine and rehabilitation clinic of our centre were evaluated. The musculoskeletal examination was performed with paediatric walking arms, legs and spine system (pGALS) and quality of life was evaluated using the Paediatric Outcome Data Collection Instrument (PODCI)\u00a0scale.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0665_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A total of 14 patients were followed in 24\u00a0months. Six of them were diagnosed with MPS type IVA while eight of them were diagnosed with MPS type VI. Mean current age was 11.57\u00a0\u00b1\u00a04.91 years, mean age at diagnosis was 2.83\u00a0\u00b1\u00a02.71\u00a0years and the mean age at ERT initiation was 4.33\u00a0\u00b1\u00a03.49\u00a0years for all patients. There were no significant differences between the initial and final PODCI scores. The pGALS examination showed that there has been a significant decrease in lower extremity pathology scores from 3.53\u00a0\u00b1\u00a02.10 to 1.76\u00a0\u00b1\u00a01.23 (p=0.03) and a decrease in total pGALS scores from 12.30\u00a0\u00b1\u00a05.02 to 9.92\u00a0\u00b1\u00a04.55 (p=0.00) while there were no significant changes in upper extremity and spine pathology scores.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0665_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Current treatment regimens provide partial stabilization of musculoskeletal pathologies in patients with MPS, but do not lead to an improvement in quality of life in this aspect.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0665","type":"journal-article","created":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T10:22:19Z","timestamp":1782210139000},"source":"Crossref","is-referenced-by-count":0,"title":["Two-year follow-up of musculoskeletal outcomes and quality of life in patients with mucopolysaccharidosis type IV and VI"],"prefix":"10.1515","author":[{"given":"Emine","family":"Gen\u00e7","sequence":"first","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation , Marmara University, Faculty of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Canan","family":"Bilekyi\u011fit Kurt","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Paediatric Metabolism and Nutrition , Marmara University, Faculty of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naime","family":"Evrim Karada\u011f Saygi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Paediatric Metabolism and Nutrition , Marmara University, Faculty of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Mehdi Deveci","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation , Marmara University, Faculty of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0220-6566","authenticated-orcid":false,"given":"Emel","family":"Yilmaz G\u00fcm\u00fc\u015f","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation , Marmara University, Faculty of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7527-2620","authenticated-orcid":false,"given":"Sebile","family":"K\u0131lavuz","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation , Marmara University, Faculty of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3004-1992","authenticated-orcid":false,"given":"\u00d6zge","family":"Keni\u015f Co\u015fkun","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Paediatric Metabolism and Nutrition , Marmara University, Faculty of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7146-0248","authenticated-orcid":false,"given":"Burcu \u00d6zt\u00fcrk","family":"Hi\u015fmi","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation , Marmara University, Faculty of Medicine , Istanbul , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,6,24]]},"reference":[{"key":"2026062311181929955_j_jpem-2025-0665_ref_001","doi-asserted-by":"crossref","unstructured":"Fecarotta, S, Tarallo, A, Damiano, C, Minopoli, N, Parenti, G. 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Mol Genet Metabol 2016;119:131\u201343. https:\/\/doi.org\/10.1016\/j.ymgme.2016.05.018.","DOI":"10.1016\/j.ymgme.2016.05.018"},{"key":"2026062311181929955_j_jpem-2025-0665_ref_004","doi-asserted-by":"crossref","unstructured":"Andrade, I, Ribeiro, R, Carneiro, ZA, Giugliani, R, Pereira, C, Cozma, C, et al.. Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report. J\u00a0Med Case Rep 2022;16:46. https:\/\/doi.org\/10.1186\/s13256-021-03240-3.","DOI":"10.1186\/s13256-021-03240-3"},{"key":"2026062311181929955_j_jpem-2025-0665_ref_005","doi-asserted-by":"crossref","unstructured":"Morishita, K, Petty, RE. Musculoskeletal manifestations of mucopolysaccharidoses. 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Open Med 2012;7:154\u201362. https:\/\/doi.org\/10.2478\/s11536-012-0003-2.","DOI":"10.2478\/s11536-012-0003-2"},{"key":"2026062311181929955_j_jpem-2025-0665_ref_015","doi-asserted-by":"crossref","unstructured":"Melbouci, M, Mason, RW, Suzuki, Y, Fukao, T, Orii, T, Tomatsu, S. Growth impairment in mucopolysaccharidoses. Mol Genet Metabol 2018;124:1\u201310. https:\/\/doi.org\/10.1016\/j.ymgme.2018.03.004.","DOI":"10.1016\/j.ymgme.2018.03.004"},{"key":"2026062311181929955_j_jpem-2025-0665_ref_016","doi-asserted-by":"crossref","unstructured":"Guffon, N, Journeau, P, Brassier, A, Leger, J, Chevallier, B. Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. 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