{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:18:09Z","timestamp":1786115889532,"version":"build-2736575974"},"reference-count":36,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Rare Disease"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:p>\n                    Mucopolysaccharidosis type I (MPS-I) is an inherited lysosomal storage disorder characterized by alpha-L-iduronidase deficiency, leading to progressive multi-organ damage and fatal complications. Early treatment is crucial to improve outcomes, particularly in patients with severe phenotypes. We present the first case of successful allogeneic bone marrow transplantation (BMT) for MPS-I in Vietnam. A 10-month-old girl experienced coarse facial features, congenital dermal melanocytosis spots, kyphoscoliosis developmental delay. Laboratory analyses revealed reduced alpha-L-iduronidase activity and elevated urinary glycosaminoglycans, genetic mutations identified two heterozygous mutations in the\n                    <jats:italic toggle=\"yes\">IDUA<\/jats:italic>\n                    gene, confirmed the diagnosis of MPS-I. At 3\u2009years old, she underwent allogeneic BMT from an HLA-matched sibling donor following conditioning regimen with busulfan, cyclophosphamide, antithymocyte globulin. Neutrophil engraftment was achieved on day +24, and platelet engrafted on day +32. The post-transplant course was complicated by respiratory deterioration requiring 5\u2009days of mechanical ventilation, which was promptly managed and resolved. No graft-versus-host disease occurred. Post-transplant chimerism showed 95.77% donor-derived cells on day +30 and remained stable at 100% from 2\u2009months. The patient demonstrated improvement in clinical symptoms, accompanied by alpha-L-iduronidase activity returned to normal range, urinary glycosaminoglycan levels decreased and remained stable during follow-up. At 12\u2009months, she demonstrated complete immune reconstitution. This case suggests that allogeneic BMT may be a therapeutic approach for patients with MPS-I in resource-limited settings.\n                  <\/jats:p>","DOI":"10.1177\/26330040261469199","type":"journal-article","created":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T07:10:38Z","timestamp":1785741038000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["First bone marrow transplantation for mucopolysaccharidosis type I in Vietnam: a case report"],"prefix":"10.1177","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6071-6172","authenticated-orcid":false,"given":"Le","family":"Nguyen-Ngoc-Quynh","sequence":"first","affiliation":[{"name":"Stem Cells Center, The National Children\u2019s Hospital, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-1404-0328","authenticated-orcid":false,"given":"Ngoc","family":"Can-Thi-Bich","sequence":"additional","affiliation":[{"name":"The Center of Endocrinology, Metabolism, Genetics and Molecular Therapy, The National Children\u2019s Hospital, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duong","family":"Dang-Anh","sequence":"additional","affiliation":[{"name":"Surgical Intensive Care Unit, The National Children\u2019s Hospital, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ha","family":"Dang-Thi","sequence":"additional","affiliation":[{"name":"Stem Cells Center, The National Children\u2019s Hospital, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thoa","family":"Ta-Thi","sequence":"additional","affiliation":[{"name":"Stem Cells Center, The National Children\u2019s Hospital, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Binh","family":"Nguyen-Thanh","sequence":"additional","affiliation":[{"name":"Pathophysiology and Immunology Department, Hanoi Medical University, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0418-2613","authenticated-orcid":false,"given":"Dung","family":"Vu-Chi","sequence":"additional","affiliation":[{"name":"The Center of Endocrinology, Metabolism, Genetics and Molecular Therapy, The National Children\u2019s Hospital, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dien","family":"Tran-Minh","sequence":"additional","affiliation":[{"name":"Surgical Intensive Care Unit, The National Children\u2019s Hospital, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tung","family":"Cao-Viet","sequence":"additional","affiliation":[{"name":"Children Heart Center, The National Children\u2019s Hospital, 18\/879 La Thanh Street, Lang Ward, Hanoi 10000, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,8,3]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker394"},{"key":"e_1_3_4_3_2","first-page":"3421","volume-title":"The metabolic and molecular bases of inherited disease","author":"Neufeld EF","unstructured":"Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, (eds). The metabolic and molecular bases of inherited disease. 8th ed. McGraw-Hill; 2001: 3421\u20133452.","edition":"8"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0112-z"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00042-3"},{"issue":"8","key":"e_1_3_4_6_2","first-page":"829","article-title":"Management of mucopolysaccharidoses","volume":"2","author":"Muenzer J.","year":"2014","unstructured":"Muenzer J. Management of mucopolysaccharidoses. Expert Opin Orphan Drugs 2014; 2(8): 829\u2013844.","journal-title":"Expert Opin Orphan Drugs"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.046"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.2174\/138920111795542642"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1705718"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2012.07.052"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-11-608075"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2008.01.009"},{"issue":"4","key":"e_1_3_4_13_2","first-page":"249","article-title":"Hematopoietic stem cell transplantation for mucopolysaccharidosis: a clinical update","volume":"9","author":"Krishnan K","year":"2020","unstructured":"Krishnan K, Sairam S, Chellsawng BL, et al. Hematopoietic stem cell transplantation for mucopolysaccharidosis: a clinical update. J Pediatr Genet 2020; 9(4): 249\u2013257.","journal-title":"J Pediatr Genet"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.7453\/gahmj.2013.008"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.4314\/ejhs.v25i3.12"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2017.s112"},{"issue":"11","key":"e_1_3_4_17_2","first-page":"1162","article-title":"Molecular analysis of vietnamese patients with mucopolysaccharidosis type I","volume":"11","author":"Can NTB","year":"2021","unstructured":"Can NTB, Tran DM, Bui TP, et al. Molecular analysis of vietnamese patients with mucopolysaccharidosis type I. life (Basel) 2021; 11(11): 1162.","journal-title":"life (Basel)"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.3390\/biom11020189"},{"key":"e_1_3_4_19_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2106596"},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.29"},{"key":"e_1_3_4_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.12.014"},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2019.02.012"},{"key":"e_1_3_4_23_2","doi-asserted-by":"publisher","DOI":"10.2147\/DDDT.S68562"},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1111\/petr.12109"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005525931994"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.11.002"},{"key":"e_1_3_4_27_2","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2017.5"},{"key":"e_1_3_4_28_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1584602"},{"key":"e_1_3_4_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41409-018-0175-8"},{"key":"e_1_3_4_30_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-0006-2"},{"key":"e_1_3_4_31_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V91.7.2601"},{"key":"e_1_3_4_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2017.03.025"},{"key":"e_1_3_4_33_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-020-01644-w"},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1705934"},{"key":"e_1_3_4_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.01.011"},{"key":"e_1_3_4_36_2","doi-asserted-by":"publisher","DOI":"10.1111\/petr.12231"},{"key":"e_1_3_4_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.arcped.2014.02.013"}],"container-title":["Therapeutic Advances in Rare Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/26330040261469199","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/26330040261469199","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/26330040261469199","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T06:16:23Z","timestamp":1785996983000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/26330040261469199"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":36,"alternative-id":["10.1177\/26330040261469199"],"URL":"https:\/\/doi.org\/10.1177\/26330040261469199","relation":{},"ISSN":["2633-0040","2633-0040"],"issn-type":[{"value":"2633-0040","type":"print"},{"value":"2633-0040","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8]]},"article-number":"26330040261469199"}}