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Control brain showed a single band with mobility of about 1 cm while NCL patients showed two additional fast moving bands. In the lateinfantile, and in the adult form (Kufs disease), the middle band was prominent while the fast moving band was predominant in juvenile NCL. In long\u2010term lymphoblasts, controls showed a single band of acid phosphatase activity while both juvenile and late\u2010infantile NCL showed two additional fast moving bands. Obligate heterozygotes showed reduced levels of the fast moving bands. Fluorometric assay of acid phosphatase using 4\u2010methylumbelliferyl phosphate as substrate showed a 2\u2010fold increase in activity in the patients. The increased acid phosphatase activity is completely inhibited by tartrate. Lymphocyte hexosamnidase activities were unchanged in NCL patients lymphoblasts. Studies on brains of NCL patients and on cultured lymphoblasts from families with late\u2010infantile and juvenile form of NCL showed that abnormal acid phosphatase is characteristic of NCL \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320570234","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:01:48Z","timestamp":1118512908000},"page":"285-289","source":"Crossref","is-referenced-by-count":7,"title":["Abnormal acid phosphatases in neuronal ceroid\u2010lipofuscinoses"],"prefix":"10.1002","volume":"57","author":[{"given":"K. M. 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