{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:42:02Z","timestamp":1760964122219,"version":"build-2065373602"},"reference-count":41,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[1992,12,1]],"date-time":"1992-12-01T00:00:00Z","timestamp":723168000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Lipids"],"published-print":{"date-parts":[[1992,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Familial Dysautonomia (FD) is an autosomal recessive disease of unknown etiology, occurring primarily in Ashkenazi Jews. Patients are neurologically impaired, with deficits primarily in autonomic and sensory functions. The biochemical and genetic defects have remained elusive, precluding carrier detection and prenatal diagnosis. High\u2010performance liquid chromatography data indicated up to a threefold increase in the neutral glycosphingolipid globotriaosylceramide in Dysautonomic fibroblasts and lymphoblasts. Total ganglioside values, measured by colorimetric, fluorometric or specific sodium borohydride incorporation, were decreased. Affected fibroblasts exhibited a range of pleomorphic phenotypes, such that the usual swirl\u2010like confluent growth pattern of normal fibroblasts was distorted to varying degrees, suggesting abnormalities in the FD plasma membrane, possibly affecting cell\u2010cell contacts. The glycosphingolipid increase could not be accounted for on the basis of markedly decreased \u03b1\u2010galactosidase activity, as in Fabry's disease, where patients also display decreased autonomic function.<\/jats:p>","DOI":"10.1007\/bf02535575","type":"journal-article","created":{"date-parts":[[2006,11,29]],"date-time":"2006-11-29T12:18:44Z","timestamp":1164802724000},"page":"978-983","source":"Crossref","is-referenced-by-count":5,"title":["Increased globotriaosylceramide in familial dysautonomia"],"prefix":"10.1002","volume":"27","author":[{"given":"Paula","family":"Strasberg","sequence":"first","affiliation":[{"name":"Department of Neurosciences the Research Institute The Hospital for Sick Children 555 University Avenue Room 9146C Toronto Ontario M5G 1X8 Canada"},{"name":"Department of Clinical Biochemistry, Faculty of Medicine University of Toronto 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