1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month November 2017 List Notes <p>Franco, Jose Francisco da Silva<br />El Dib, Regina<br />Agarwal, Arnav<br />Soares, Diogo<br />Milhan, Noala Vicensoto Moreira<br />Albano, Lilian Maria Jose<br />Kim, Chong Ae<br />Journal Article<br />Japan<br />Intractable Rare Dis Res. 2017 Aug;6(3):183-190. doi: 10.5582/irdr.2017.01036.</p> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study Publisher An entity responsible for making the resource available Intractable Rare Dis Res Date A point or period of time associated with an event in the lifecycle of the resource 2017 Subject The topic of the resource Glycosaminoglycans; Lysosomal Storage Disorders; Prognosis; Treatment Creator An entity primarily responsible for making the resource Franco Jfds; El Dib R; Agarwal A; Soares D; Milhan NVM; Albano LMJ; Kim CA Description An account of the resource Mucopolysaccharidoses (MPS) types I, II and VI are associated with deficiencies in alpha-L-iduronidase, iduronate-2-sulfatase and N-acetylgalactosamine-4-sulfatase, respectively, and generally involve progressive and multi-systemic clinical manifestations. Enzyme replacement therapy (ERT) appears to be reasonably well tolerated. The aim of this study was to examine clinical and diagnostic findings of a series of pediatric and adult MPS patients, and assess the safety and efficacy of ERT in children and adults with MPS type I, II and VI. Pediatric and adult patients were treated weekly with 1 mg/kg recombinant human N-acetylgalactosamine-4-sulphatase (rhASB), 0.45 mg/kg alpha-L-iduronidase, or 0.5 mg/kg iduronate-2-sulfatase. Clinical and biochemical parameters with ERT were evaluated for a mean duration of 5 years. Mantel-Haenszel risk ratios and associated 95% confidence intervals (CIs) were calculated for rates of death among different types of enzyme replacement therapies (ERTs). Twenty-seven patients (mean ages pediatric: 6.8 years; adult: 29 years) were included. ERT was found to be consistently well tolerated and effective in attenuating symptoms, but did not prevent the progression of the disease or reduce mortality rates. Our findings demonstrated that early diagnosis and initiation of ERT are critical for improvements in patient-important outcomes and quality of life, although disease progression and mortality rates remain high. Identifier An unambiguous reference to the resource within a given context 10.5582/irdr.2017.01036 Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). 2017 Agarwal A Albano LMJ El Dib R Franco Jfds Glycosaminoglycans Intractable Rare Dis Res Kim CA Lysosomal Storage Disorders Milhan NVM November 2017 List Prognosis Soares D Treatment