title: Tay-Sachs disease: from clinical description to molecular defect.
authors.affiliation: Department of Pediatrics, University of California, San Diego School of Medicine, 92123, USA. mkaback@ncsd.edu
authors.forename: M M
authors.initials: MM
authors.lastname: Kaback
authors.forename: R J
authors.initials: RJ
authors.lastname: Desnick
mesh_terms: D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D013661:Tay-Sachs Disease / Q000175:diagnosis / Q000235:genetics / Q000266:history* / Q000628:therapy