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Excessive amounts of sialic acid\u2010containing compounds were found in cultured fibroblasts, leukocytes, and urine of a patient with a clinical phenotype of mucolipidosis I. In cultured fibroblasts, profoundly diminished activity of an \u03b1\u2010N\u2010acetylneuraminidase (sialidase) was found. Mucolipidosis I thus appears to be a distinct disorder of complex carbohydrate catabolism caused by the genetic deficiency of a neuraminidase.<\/jats:p>","DOI":"10.1002\/ajmg.1320010104","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:20:08Z","timestamp":1118496008000},"page":"21-29","source":"Crossref","is-referenced-by-count":85,"title":["Mucolipidosis I \u2014 A sialidosis"],"prefix":"10.1002","volume":"1","author":[{"given":"J.","family":"Spranger","sequence":"first","affiliation":[]},{"given":"J.","family":"Gehler","sequence":"additional","affiliation":[]},{"given":"M.","family":"Cantz","sequence":"additional","affiliation":[]},{"given":"J. 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