{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T23:54:40Z","timestamp":1782258880953,"version":"3.54.5"},"reference-count":24,"publisher":"Wiley","issue":"s2","license":[{"start":{"date-parts":[[2016,10,28]],"date-time":"2016-10-28T00:00:00Z","timestamp":1477612800000},"content-version":"vor","delay-in-days":57,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as \u201ccherry red spot\u2010myoclonus syndrome\u201d develop myoclonic epilepsy, visual impairment and ataxia in the second or third decade of life. The diagnosis is usually suggested by increased urinary bound sialic acid excretion. We recently described genetically diagnosed patients with a specially mild phenotype, no retinal abnormalities and normal urinary sialic acid. This observation suggests that genetic analysis or the demonstration of the neuraminidase enzyme deficiency in cultured fibroblasts are needed to detect and diagnose mildest phenotypes.<\/jats:p>","DOI":"10.1684\/epd.2016.0845","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"source":"Crossref","is-referenced-by-count":34,"title":["Sialidoses"],"prefix":"10.1002","volume":"18","author":[{"given":"Silvana","family":"Franceschetti","sequence":"first","affiliation":[{"name":"Fondazione I.R.C.C.S., Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Canafoglia","sequence":"additional","affiliation":[{"name":"Fondazione I.R.C.C.S., Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,10,28]]},"reference":[{"key":"e_1_2_11_2_1","first-page":"266","article-title":"Pathological study in an adult","volume":"8","author":"Allegranza A","year":"1989","journal-title":"Clin Neuropathol"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.10.24.3156"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.18.2715"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2011.01.013"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000482"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(77)90363-1"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1977.tb05589.x"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.43.10.934"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170409"},{"key":"e_1_2_11_11_1","first-page":"1","article-title":"Sialidosis: a review of human neuraminidase deficiency","volume":"31","author":"Lowden JA","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M100460200"},{"issue":"2","key":"e_1_2_11_13_1","first-page":"S1","article-title":"Progressive Myoclonus Epilepsies: State\u2010of\u2010the\u2010Art","volume":"18","author":"Minassian BA","year":"2016","journal-title":"Epileptic Disord"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11940-005-0015-1"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000008141"},{"key":"e_1_2_11_16_1","first-page":"1041","article-title":"Movement\u2010activated myoclonus in genetically defined progressive myoclonic epilepsies: EEG\u2010EMG relationship estimated using autoregressive models","volume":"114","author":"Panzica F","year":"2003","journal-title":"Clin Neuro Physiol"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10278"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0397-316"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410030309"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_472"},{"key":"e_1_2_11_21_1","first-page":"105","article-title":"The cherry red\u2010spot\u2010myoclonus syndrome and neuraminidase deficiency","volume":"14","author":"Spranger J","year":"1978","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.42.10.873"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0013-4694(85)90944-7"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.03.007"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.05.005"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2016.0845","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:10:10Z","timestamp":1710778210000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2016.0845"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9]]},"references-count":24,"journal-issue":{"issue":"s2","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1684\/epd.2016.0845"],"URL":"https:\/\/doi.org\/10.1684\/epd.2016.0845","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9]]}}}