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She presented before introduction of solid foods, given her consumption of a fructose\u2010containing infant formula. We present the most extensive panel of lysosomal enzyme activities reported to date in a patient with HFI, and propose that multiple enzyme elevations in plasma, especially when in conjunction with a normal plasma \u03b1\u2010mannosidase activity, should elicit a differential diagnosis of HFI. We also performed a review of the literature on the different etiologies of elevated lysosomal enzyme activities in serum or plasma. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38023","type":"journal-article","created":{"date-parts":[[2016,10,31]],"date-time":"2016-10-31T15:32:53Z","timestamp":1477927973000},"page":"501-509","source":"Crossref","is-referenced-by-count":12,"title":["Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum"],"prefix":"10.1002","volume":"173","author":[{"given":"Carlos R.","family":"Ferreira","sequence":"first","affiliation":[{"name":"National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Division of Genetics and Metabolism Children's National Health System Washington District Of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph M.","family":"Devaney","sequence":"additional","affiliation":[{"name":"Division of Laboratory Medicine Children's National Health System Washington District Of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sean E.","family":"Hofherr","sequence":"additional","affiliation":[{"name":"Division of Laboratory Medicine Children's National Health System Washington District Of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura M.","family":"Pollard","sequence":"additional","affiliation":[{"name":"Biochemical Genetics Laboratory Greenwood Genetic Center Greenwood South Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Cusmano\u2010Ozog","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism Children's National Health System Washington District Of Columbia"},{"name":"Division of Laboratory Medicine Children's National Health System Washington District Of Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,10,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000458871"},{"key":"e_1_2_6_3_1","first-page":"465","article-title":"Hereditary fructose intolerance in early childhood: A major diagnostic challenge. 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