{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:41:05Z","timestamp":1753882865759,"version":"3.41.2"},"reference-count":33,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p> Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various tissues, which interferes with cell function. We report three cases that were classified as Hurler\u2014Mucopolysaccharidosis I, Morquio\u2014Mucopolysaccharidosis IV A, and Maroteaux\u2013Lamy\u2014Mucopolysaccharidosis VI. Clinical presentations of these cases vary, depending on each type of enzyme defect. All the patients appeared healthy at birth, and symptoms appear at around 1 or 2\u2009years. Clinical features, radiological findings, and especially enzyme assays have allowed us to establish a definitive diagnosis in these cases. These cases highlight that abnormal clinical symptoms, such as growth failure, coarse facial features, and joint problems, are key points for further investigation relating to mucopolysaccharidosis disease. However, in low- and middle-income countries, it is difficult to have a definitive diagnosis of one of the mucopolysaccharidoses due to lacking enzyme assays. <\/jats:p>","DOI":"10.1177\/2050313x20938245","type":"journal-article","created":{"date-parts":[[2020,6,29]],"date-time":"2020-06-29T10:31:09Z","timestamp":1593426669000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["A case study of three patients with mucopolysaccharidoses in Hue Central Hospital"],"prefix":"10.1177","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5218-3529","authenticated-orcid":false,"given":"Tran","family":"Kiem Hao","sequence":"first","affiliation":[{"name":"Pediatric Center, Hue Central Hospital, Hue City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Thi","family":"Diem Chi","sequence":"additional","affiliation":[{"name":"Pediatric Center, Hue Central Hospital, Hue City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Thi","family":"Hong Duc","sequence":"additional","affiliation":[{"name":"Pediatric Center, Hue Central Hospital, Hue City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Thi","family":"Kim Hoa","sequence":"additional","affiliation":[{"name":"Pediatric Center, Hue Central Hospital, Hue City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,6,29]]},"reference":[{"key":"bibr1-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(86)33537-1"},{"key":"bibr2-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.06.007"},{"key":"bibr3-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-018-0564-z"},{"key":"bibr4-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.05.016"},{"key":"bibr5-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker394"},{"key":"bibr6-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.08.008"},{"key":"bibr7-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0136-z"},{"key":"bibr8-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2018.09.063"},{"key":"bibr9-2050313X20938245","first-page":"80","volume":"27","author":"Cheema HA","year":"2017","journal-title":"J Coll Physicians Surg Pak"},{"key":"bibr10-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2015.11.011"},{"key":"bibr11-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.05.005"},{"key":"bibr12-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics9040148"},{"key":"bibr13-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.aca.2016.06.054"},{"key":"bibr14-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/471325"},{"key":"bibr15-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9981-6"},{"key":"bibr16-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-018-0560-3"},{"key":"bibr17-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1080\/14737159.2018.1523722"},{"key":"bibr18-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-018-0551-4"},{"key":"bibr19-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.01.003"},{"key":"bibr20-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1517\/17425247.2014.880689"},{"key":"bibr21-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1517\/14728214.2016.1123690"},{"key":"bibr22-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1080\/17425247.2016.1202235"},{"key":"bibr23-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1007\/s12291-013-0347-7"},{"key":"bibr24-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.052"},{"volume-title":"Hurler syndrome","year":"2019","author":"Sakuru R","key":"bibr25-2050313X20938245"},{"key":"bibr26-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.arcped.2014.02.013"},{"key":"bibr27-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1105-6"},{"key":"bibr28-2050313X20938245","first-page":"e2270","volume":"10","author":"Ramphul K","year":"2018","journal-title":"Cureus"},{"key":"bibr29-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22635"},{"key":"bibr30-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-5"},{"key":"bibr31-2050313X20938245","first-page":"587","volume":"47","author":"Azak E","year":"2019","journal-title":"Turk Kardiyoloji Dernegi Arsivi"},{"key":"bibr32-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2011.06.097"},{"key":"bibr33-2050313X20938245","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2005.11.007"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X20938245","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X20938245","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X20938245","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,25]],"date-time":"2025-01-25T02:01:59Z","timestamp":1737770519000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X20938245"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1]]},"references-count":33,"alternative-id":["10.1177\/2050313X20938245"],"URL":"https:\/\/doi.org\/10.1177\/2050313x20938245","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"type":"print","value":"2050-313X"},{"type":"electronic","value":"2050-313X"}],"subject":[],"published":{"date-parts":[[2020,1]]},"article-number":"2050313X20938245"}}