{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T07:33:01Z","timestamp":1770881581818,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,5,4]],"date-time":"2011-05-04T00:00:00Z","timestamp":1304467200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Mucopolysaccharidosis I (MPS I) comprises a spectrum of clinical manifestations and is divided into three phenotypes reflecting clinical severity: Hurler, Hurler\u2010Scheie, and Scheie syndromes. There may be important variations in clinical manifestations of this genetic disease in patients residing in different regions of the world.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using data from the MPS I Registry (as of September 2009), we evaluated patients from Latin America (<jats:italic>n<\/jats:italic>\u2009=\u2009118) compared with patients from the rest of the world [ROW (<jats:italic>n<\/jats:italic>\u2009=\u2009727)].<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Phenotype distribution differed among patients in Latin America compared to ROW (Hurler 31 vs. 62%, Hurler\u2010Scheie 36 vs. 21%, Scheie 10 vs. 11%, and unknown 22 vs. 6%). The frequency of certain symptoms, such as cardiac valve abnormalities, sleep impairment, and joint contractures, also differed between Latin America and ROW for some phenotypes. Median age at MPS I diagnosis was earlier in the ROW than Latin America for all phenotypes, and age at first treatment for Hurler and Hurler\u2010Scheie patients was also earlier in the ROW. Hurler patients in Latin America showed a gap of 3.1 years between median ages of diagnosis and first treatment compared to only 0.5 years in the ROW. Treatment allocation in Latin America compared to ROW was as follows: enzyme replacement therapy (ERT) only, 80 vs. 45%; hematopoietic stem cell transplantation (HSCT) only, 0.9 vs. 27%; both ERT and HSCT, 0 vs. 16%; and neither treatment, 19 vs. 13%.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These data highlight important differences in MPS I patients between Latin America and ROW in terms of phenotypic distribution, clinical manifestations, and treatment practices.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-011-9336-2","type":"journal-article","created":{"date-parts":[[2011,5,3]],"date-time":"2011-05-03T10:03:36Z","timestamp":1304417016000},"page":"1029-1037","source":"Crossref","is-referenced-by-count":15,"title":["Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world"],"prefix":"10.1002","volume":"34","author":[{"given":"Mar\u00eda Ver\u00f3nica","family":"Mu\u00f1oz\u2010Rojas","sequence":"first","affiliation":[{"name":"Genzyme do Brazil Av. Francisco Matarazzo, 1400, Edif\u00edcio Milano \u2013 10\u00b0 andar S\u00e3o Paulo SP 05001\u2010903 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luisa","family":"Bay","sequence":"additional","affiliation":[{"name":"Unidad de Errores Cong\u00e9nitos del Metabolismo Hospital Nacional de Pediatr\u00eda J.P. Garrahan Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luz","family":"Sanchez","sequence":"additional","affiliation":[{"name":"Pediatra y Neonat\u00f3loga Hospital de Especialidades UMAE 25 Monterrey M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel","family":"van Kuijck","sequence":"additional","affiliation":[{"name":"Registry &amp; Compassionate Use Programs Genzyme, Latin America Group Rio de Janeiro Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Ospina","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Universitaria de Ciencias de la Salud, Universidad del Rosario Bogot\u00e1 Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Francisco","family":"Cabello","sequence":"additional","affiliation":[{"name":"Neur\u00f3logo Infantil. Programa de Formaci\u00f3n Neuropediatria, Facultad de Medicina Univerisad de Valparaiso Valparaiso Chile"},{"name":"Laboratorio de Gen\u00e9tica y Enfermedades Metab\u00f3licas del Instituto de Nutrici\u00f3n y Tecnolog\u00eda de los Alimentos (INTA) Universidad de Chile Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Maria","family":"Martins","sequence":"additional","affiliation":[{"name":"Centro de Refer\u00eancia em Erros Inatos do Metabolismo Universidade Federal de S\u00e3o Paulo S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,5,4]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbmt.2008.01.009"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1705718"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3847"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1705401"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3001380"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-1728"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200101183440304"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1705586"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.07.005"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-0416"},{"key":"e_1_2_9_12_1","first-page":"3421","volume-title":"The metabolic and molecular bases of inherited disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.01.011"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.08.007"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa032613"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000078027.83236.49"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0457-y"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9113-7"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0838-5"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2005.tb02004.x"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1517\/14656566.6.3.489"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.046"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.2165\/00063030-200519010-00001"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9336-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T21:09:00Z","timestamp":1694812140000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9336-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,4]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1007\/s10545-011-9336-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-011-9336-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,4]]}}}