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Four of the patients had convergent strabismus and none progressed beyond a developmental age of 15 months. One patient died of aspiration at 17 years while the oldest patient entered puberty at 20 years, developed a coarse face at 30 years, and is now 32 years old. Histopathological studies in four patients showed storage changes characteristic of MLIV.<\/jats:p>","DOI":"10.1002\/ajmg.1320410310","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:47:06Z","timestamp":1118548026000},"page":"313-318","source":"Crossref","is-referenced-by-count":62,"title":["Mucolipidosis type IV: Clinical manifestations and natural history"],"prefix":"10.1002","volume":"41","author":[{"given":"David","family":"Chitayat","sequence":"first","affiliation":[]},{"given":"Catherine M.","family":"Meunier","sequence":"additional","affiliation":[]},{"given":"Kathy A.","family":"Hodgkinson","sequence":"additional","affiliation":[]},{"given":"Kenneth","family":"Silver","sequence":"additional","affiliation":[]},{"given":"Michael","family":"Flanders","sequence":"additional","affiliation":[]},{"given":"Ilse J.","family":"Anderson","sequence":"additional","affiliation":[]},{"given":"John M.","family":"Little","sequence":"additional","affiliation":[]},{"given":"David A. H.","family":"Whiteman","sequence":"additional","affiliation":[]},{"given":"Stirling","family":"Carpenter","sequence":"additional","affiliation":[]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1542\/peds.79.6.953","article-title":"Mucolipidosis type IV: Clinical spectrum and natural history","volume":"79","author":"Amir M","year":"1987","journal-title":"Pediatrics"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(79)91183-5"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80671-2"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02179146"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310611"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120308"},{"key":"e_1_2_1_8_1","first-page":"73","article-title":"Morphologic and chemical biopsy findings in mucolipidosis IV","volume":"1","author":"Goebel HH","year":"1982","journal-title":"Clin Neuropath"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1085335"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1979.01020010560011"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2600069"},{"key":"e_1_2_1_12_1","first-page":"437","article-title":"Mucolipidosis IV: Ocular, systemic and ultrastructural findings","volume":"14","author":"Merin S","year":"1975","journal-title":"Investig Ophthal"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270429"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(85)90220-X"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410310","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T02:00:24Z","timestamp":1698026424000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,12]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1991,12]]}},"alternative-id":["10.1002\/ajmg.1320410310"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410310","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,12]]}}}