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Lysosomal sialidase activity in homozygotes was absent, and that in heterozygotes was significantly decreased to 70% of control level. The results indicate that carriers can be detected by the assay of lysosomal sialidase activity of lymphocytes.<\/jats:p>","DOI":"10.1002\/ana.410150211","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T17:05:05Z","timestamp":1104599105000},"page":"181-183","source":"Crossref","is-referenced-by-count":8,"title":["Carrier detection of sialidosis with partial \u03b2\u2010galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes"],"prefix":"10.1002","volume":"15","author":[{"given":"Shoji","family":"Tsuji","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takamichi","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Ariga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Itaru","family":"Toyoshima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haruyasu","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshisuke","family":"Kitahara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Miyatake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamio","family":"Yamakawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.15.4535"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(81)91692-2"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/285500a0"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90153-9"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313045"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(82)90180-0"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90083-0"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410060310"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(79)80097-6"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00569704"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441360"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-7844-0_37"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00282820"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410110517"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1968.tb19570.x"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(78)90915-4"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4165(83)90279-9"},{"key":"e_1_2_1_19_2","first-page":"1","article-title":"A case of adult type sialidosis with partial \u03b2\u2010galactosidase deficiency without myoclonus","volume":"23","author":"Yamaguchi H","year":"1983","journal-title":"Clin Neurol"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410150211","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410150211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T02:26:01Z","timestamp":1697768761000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410150211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,2]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1984,2]]}},"alternative-id":["10.1002\/ana.410150211"],"URL":"https:\/\/doi.org\/10.1002\/ana.410150211","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,2]]}}}