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Numerous fingerprint profiles (FP) were found in vacuolated lymphocytes from all 3 patients and an asymptomatic younger sibling of 1 patient who subsequently became symptomatic. We propose that the combination of this clinical picture and vacuolated lymphocytes with FP is sufficiently distinctive for clinical and research purposes until the biochemical defect is discovered. Wider utilization of ultrastructural study of lymphocytes should increase the number of children diagnosed and allow detection of asymptomatic patients.<\/jats:p>","DOI":"10.1002\/ana.410040609","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T16:48:16Z","timestamp":1104598096000},"page":"531-536","source":"Crossref","is-referenced-by-count":25,"title":["Juvenile amaurotic idiocy (neuronal ceroid lipofuscinosis) and lymphocyte fingerprint profiles"],"prefix":"10.1002","volume":"4","author":[{"given":"Robert J.","family":"Baumann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William R.","family":"Markesbery","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":"10.1093\/brain\/100.1.137"},{"key":"e_1_2_1_3_2","first-page":"65","article-title":"Childhood, juvenile, and adult cerebral lipidoses: are these different nosological entities","volume":"97","author":"Dekaban AS","year":"1974","journal-title":"Arch Pathol"},{"key":"e_1_2_1_4_2","first-page":"67","article-title":"Skin punch biopsies and lymphocytes in the diagnosis of lipidoses","volume":"2","author":"Dolman CL","year":"1975","journal-title":"J Neurol Sci"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.1968.tb01723.x"},{"key":"e_1_2_1_6_2","first-page":"155","article-title":"Fine structure and histochemistry of peripheral blood cells in Niemann\u2010Pick disease","volume":"17","author":"Lazarus SS","year":"1967","journal-title":"Lab Invest"},{"key":"e_1_2_1_7_2","first-page":"597","article-title":"On the significance of curvilinear bodies in late\u2010infantile lipidosis","volume":"77","author":"Lenn NJ","year":"1973","journal-title":"Am J Ment Defic"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.38.2.175"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500090036007"},{"key":"e_1_2_1_10_2","first-page":"11","volume-title":"Juvenile amaurotic idiocy in Sweden","author":"Rayner S","year":"1962"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00699638"},{"key":"e_1_2_1_12_2","first-page":"615","volume-title":"The Metabolic Basis of Inherited Disease","author":"Slone HR","year":"1972"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688560"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00689002"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-76-6-1042"},{"key":"e_1_2_1_16_2","first-page":"212","volume-title":"Leucodystrophies and Poliodystrophies","author":"Zeman W","year":"1970"},{"key":"e_1_2_1_17_2","first-page":"588","volume-title":"Leucodystrophies and Poliodystrophies","author":"Zeman W","year":"1970"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-1-4831-9855-2.50038-1"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410040609","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410040609","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T07:57:32Z","timestamp":1698911852000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410040609"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,12]]},"references-count":17,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1978,12]]}},"alternative-id":["10.1002\/ana.410040609"],"URL":"https:\/\/doi.org\/10.1002\/ana.410040609","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,12]]}}}