{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T07:25:49Z","timestamp":1781335549625,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2011,7,22]],"date-time":"2011-07-22T00:00:00Z","timestamp":1311292800000},"content-version":"vor","delay-in-days":202,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>Background<\/jats:italic>: Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the \u03b1\u2010<jats:sc>L<\/jats:sc>\u2010iduronidase (IDUA), which leads to the accumulation of glycosaminoglycans in lysosomes. MPS I patients present a spectrum ranging from a severe to an attenuated phenotype. Once clinical suspicion is present, diagnosis of MPS I can be performed by enzyme activity determination and\/or molecular analysis. The aim of this study was to establish a reference interval value to IDUA activity using a dried blood spots (DBS) assay and to evaluate whether this assay could be a secure tool to diagnose MPS I patients. <jats:italic>Results<\/jats:italic>: IDUA activity range on HV DBS samples were 1.40\u20137.78\u2009\u00b5mol\/l blood\/hr. Regarding the validation group, 11 of the 36 individuals clinically suspected of MPS I had the diagnosis confirmed by DBS and reference assay (leukocytes). When we considered the new proposed cutoff value of 1.5\u2009\u00b5mol\/l blood\/hr, the sensitivity, specificity, and predictive values were 100%. <jats:italic>Conclusions<\/jats:italic>: Our results strongly suggest that the determination of IDUA activity using a DBS assay is a secure tool for MPS I diagnosis. However, it is extremely important to assure that all recommendations for collection, transport, and storage are correctly followed to guarantee the quality of the samples. J. Clin. Lab. Anal. 25:251\u2013254, 2011. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/jcla.20468","type":"journal-article","created":{"date-parts":[[2011,7,24]],"date-time":"2011-07-24T16:29:32Z","timestamp":1311524972000},"page":"251-254","source":"Crossref","is-referenced-by-count":7,"title":["Evaluation of \u03b1\u2010iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis"],"prefix":"10.1002","volume":"25","author":[{"given":"Karen B.","family":"M\u00fcller","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa G.","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana M.","family":"Martins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e2nia","family":"D'Almeida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,7,22]]},"reference":[{"key":"e_1_2_6_2_2","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(73)90577-8"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(75)90134-5"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00466268"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.76.5.2331"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.4.780"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.12.2098"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/47.11.2068"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2008.12.006"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V11.5.436.436"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/1746-1596-5-65"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2004.047167"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00478-8"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00798-7"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcla.20468","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.20468","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T14:58:55Z","timestamp":1696863535000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.20468"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,1]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["10.1002\/jcla.20468"],"URL":"https:\/\/doi.org\/10.1002\/jcla.20468","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,1]]}}}