{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T19:53:05Z","timestamp":1778356385912,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,5]],"date-time":"2022-11-05T00:00:00Z","timestamp":1667606400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder caused by the deficiency of \u03b1\u2010L\u2010iduronidase and characterized by a progressive course with multisystem involvement. Clinically, MPS I is divided into two forms: (1) severe (Hurler syndrome), which presents in infancy and is characterized by rapid progressive neurological involvement; (2) attenuated (Hurler\/Scheie and Scheie syndromes), which displays a slower progression and absent to mild nervous system involvement. The specific treatment for attenuated MPS I consists of enzyme\u2010replacement therapy with laronidase (human recombinant \u03b1\u2010L\u2010iduronidase, Aldurazyme). We present updated data after 18\u2009years of laronidase treatment in two siblings affected by the attenuated form of MPS I who started therapy at 5\u00a0months and 5\u2009years of age, respectively. Clinical and laboratory data of the siblings show that long\u2010term enzyme replacement therapy may improve\/stabilize many symptoms already present at the time of the diagnosis and reduce the disease progression. This study confirms that early diagnosis and early initiation of enzyme\u2010replacement therapy are essential to modify positively the natural history of the attenuated form of MPS I.<\/jats:p>","DOI":"10.1002\/ajmg.a.63029","type":"journal-article","created":{"date-parts":[[2022,11,5]],"date-time":"2022-11-05T08:50:04Z","timestamp":1667638204000},"page":"564-569","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["18\u2010year follow\u2010up of enzyme\u2010replacement therapy in two siblings with attenuated mucopolysaccharidosis I"],"prefix":"10.1002","volume":"191","author":[{"given":"Dorina","family":"Pjetraj","sequence":"first","affiliation":[{"name":"Pediatric Division, Department of Clinical Sciences Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi  Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8987-4139","authenticated-orcid":false,"given":"Lucia","family":"Santoro","sequence":"additional","affiliation":[{"name":"Pediatric Division, Department of Clinical Sciences Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi  Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Sgattoni","sequence":"additional","affiliation":[{"name":"Medical Genetics and Rare Disease Coordination Institute of Maternal\u2010Infantile Sciences, Ospedali Riuniti, Presidio Torrette  Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Padella","sequence":"additional","affiliation":[{"name":"Pediatric Division, Department of Clinical Sciences Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi  Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Zampini","sequence":"additional","affiliation":[{"name":"Pediatric Division, Department of Clinical Sciences Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi  Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Monachesi","sequence":"additional","affiliation":[{"name":"Pediatric Division, Department of Clinical Sciences Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi  Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orazio","family":"Gabrielli","sequence":"additional","affiliation":[{"name":"Pediatric Division, Department of Clinical Sciences Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi  Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Catassi","sequence":"additional","affiliation":[{"name":"Pediatric Division, Department of Clinical Sciences Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi  Ancona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjcard.2006.02.047"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3847"},{"key":"e_1_2_6_4_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Clarke L. 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