{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T02:29:09Z","timestamp":1760236149929,"version":"build-2065373602"},"reference-count":24,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2021,10,30]],"date-time":"2021-10-30T00:00:00Z","timestamp":1635552000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by deleterious mutations in the \u03b1-L-iduronidase (IDUA) gene. Until now, MPS I in Vietnamese has been poorly addressed. Five MPS I patients were studied with direct DNA sequencing using Illumina technology confirming pathogenic variants in the IDUA gene. Clinical characteristics, additional laboratory results, and family history were collected. All patients have presented with the classical characteristic of MPS I, and \u03b1-L-iduronidase activity was low with the accumulation of glycosaminoglycans. Three variants in the IDUA gene (c.1190-10C&gt;A (Intronic), c.1046A&gt;G (p.Asp349Gly), c.1862G&gt;C (p.Arg621Pro) were identified. The c.1190-10C&gt;A variant represents six of the ten disease alleles, indicating a founder effect for MPS I in the Vietnamese population. Using biochemical and genetic analyses, the precise incidence of MPS I in this population should accelerate early diagnosis, newborn screening, prognosis, and optimal treatment.<\/jats:p>","DOI":"10.3390\/life11111162","type":"journal-article","created":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T22:22:24Z","timestamp":1635805344000},"page":"1162","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I"],"prefix":"10.3390","volume":"11","author":[{"given":"Ngoc Thi Bich","family":"Can","sequence":"first","affiliation":[{"name":"Vietnam National Children\u2019s Hospital, 18\/879 Lathanh, Dongda, Hanoi 100000, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dien Minh","family":"Tran","sequence":"additional","affiliation":[{"name":"Vietnam National Children\u2019s Hospital, 18\/879 Lathanh, Dongda, Hanoi 100000, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thao Phuong","family":"Bui","sequence":"additional","affiliation":[{"name":"Vietnam National Children\u2019s Hospital, 18\/879 Lathanh, Dongda, Hanoi 100000, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khanh Ngoc","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Vietnam National Children\u2019s Hospital, 18\/879 Lathanh, Dongda, Hanoi 100000, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6284-5813","authenticated-orcid":false,"given":"Hoang Huy","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet, Hanoi 100000, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4624-5567","authenticated-orcid":false,"given":"Tung Van","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research, Vietnam Academy of Science and Technology, 18-Hoang Quoc Viet, Hanoi 100000, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6690-4879","authenticated-orcid":false,"given":"Wuh-Liang","family":"Hwu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei 10041, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0673-2160","authenticated-orcid":false,"given":"Shunji","family":"Tomatsu","sequence":"additional","affiliation":[{"name":"Nemours\/Alfred I. duPont Hospital for Children, DuPont Experimental Station, Bldg. E400. #5205, 200 Powder Mill Rd., Wilmington, DE 19803, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dung Chi","family":"Vu","sequence":"additional","affiliation":[{"name":"Vietnam National Children\u2019s Hospital, 18\/879 Lathanh, Dongda, Hanoi 100000, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,10,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"AB112","DOI":"10.21037\/atm.2017.s112","article-title":"AB112. Spectrum of mucopolysaccharidoses in Vietnam","volume":"5","author":"Vu","year":"2017","journal-title":"Ann. Transl. Med."},{"key":"ref_2","first-page":"11","article-title":"Diagnosis and Management of Patients with Mucopolysaccharidoses in Malaysia","volume":"4","author":"Ngu","year":"2018","journal-title":"J. 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