{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T14:26:02Z","timestamp":1791815162965,"version":"4.3.4"},"reference-count":123,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,3,16]],"date-time":"2020-03-16T00:00:00Z","timestamp":1584316800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["465549\/2014-4"],"award-info":[{"award-number":["465549\/2014-4"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["405495\/2018-8"],"award-info":[{"award-number":["405495\/2018-8"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["88887.136366\/2017-00"],"award-info":[{"award-number":["88887.136366\/2017-00"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004263","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado do Rio Grande do Sul","doi-asserted-by":"publisher","award":["17\/2551-0000521-0"],"award-info":[{"award-number":["17\/2551-0000521-0"]}],"id":[{"id":"10.13039\/501100004263","id-type":"DOI","asserted-by":"publisher"}]},{"name":"FIPE-HCPA","award":["17-0445"],"award-info":[{"award-number":["17-0445"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of \u03b1-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classical form is known as Hurler syndrome, the intermediate form as Hurler\u2013Scheie, and the most attenuated form is known as Scheie syndrome. Phenotype seems to be largely influenced by genotype. Patients usually develop several somatic symptoms such as abdominal hernias, extensive dermal melanocytosis, thoracolumbar kyphosis odontoid dysplasia, arthropathy, coxa valga and genu valgum, coarse facial features, respiratory and cardiac impairment. The diagnosis is based on the quantification of \u03b1-l-iduronidase coupled with glycosaminoglycan analysis and gene sequencing. Guidelines for treatment recommend hematopoietic stem cell transplantation for young Hurler patients (usually at less than 30 months of age). Intravenous enzyme replacement is approved and is the standard of care for attenuated\u2014Hurler\u2013Scheie and Scheie\u2014forms (without cognitive impairment) and for the late-diagnosed severe\u2014Hurler\u2014cases. Intrathecal enzyme replacement therapy is under evaluation, but it seems to be safe and effective. Other therapeutic approaches such as gene therapy, gene editing, stop codon read through, and therapy with small molecules are under development. Newborn screening is now allowing the early identification of MPS I patients, who can then be treated within their first days of life, potentially leading to a dramatic change in the disease\u2019s progression. Supportive care is very important to improve quality of life and might include several surgeries throughout the life course.<\/jats:p>","DOI":"10.3390\/diagnostics10030161","type":"journal-article","created":{"date-parts":[[2020,3,17]],"date-time":"2020-03-17T09:27:41Z","timestamp":1584437261000},"page":"161","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":71,"title":["Mucopolysaccharidosis Type I"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9330-0154","authenticated-orcid":false,"given":"Francyne","family":"Kubaski","sequence":"first","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501970, Brazil"},{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035903, Brazil"},{"name":"INAGEMP, Porto Alegre 90035903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0804-2876","authenticated-orcid":false,"given":"Fabiano","family":"de Oliveira Poswar","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501970, Brazil"},{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2907-5906","authenticated-orcid":false,"given":"Kristiane","family":"Michelin-Tirelli","sequence":"additional","affiliation":[{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4977-6662","authenticated-orcid":false,"given":"Ursula da Silveira","family":"Matte","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501970, Brazil"},{"name":"INAGEMP, Porto Alegre 90035903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035903, Brazil"},{"name":"Gene Therapy Center, HCPA, Porto Alegre 90035903, Brazil"},{"name":"Department of Genetics, UFRGS, Porto Alegre 91501970, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dafne D.","family":"Horovitz","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, National Institute of Women, Children, and Adolescent Health, Oswaldo Cruz Foundation, Rio de Janeiro 21040900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneliese Lopes","family":"Barth","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, National Institute of Women, Children, and Adolescent Health, Oswaldo Cruz Foundation, Rio de Janeiro 21040900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1598-5861","authenticated-orcid":false,"given":"Guilherme","family":"Baldo","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501970, Brazil"},{"name":"INAGEMP, Porto Alegre 90035903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035903, Brazil"},{"name":"Gene Therapy Center, HCPA, Porto Alegre 90035903, Brazil"},{"name":"Department of Physiology, UFRGS, Porto Alegre 90050170, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6030-1903","authenticated-orcid":false,"given":"Filippo","family":"Vairo","sequence":"additional","affiliation":[{"name":"Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA"},{"name":"Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Postgraduate Program in Genetics and Molecular Biology, UFRGS, Porto Alegre 91501970, Brazil"},{"name":"Medical Genetics Service, HCPA, Porto Alegre 90035903, Brazil"},{"name":"INAGEMP, Porto Alegre 90035903, Brazil"},{"name":"Biodiscovery Research Group, Experimental Research Center, HCPA, Porto Alegre 90035903, Brazil"},{"name":"Gene Therapy Center, HCPA, Porto Alegre 90035903, Brazil"},{"name":"Department of Genetics, UFRGS, Porto Alegre 91501970, Brazil"},{"name":"Postgraduation Program in Medicine, Clinical Sciences, UFRGS, Porto Alegre 90035003, 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