{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:44:47Z","timestamp":1759333487422},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1990,4,26]],"date-time":"1990-04-26T00:00:00Z","timestamp":641088000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1991,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report a female infant with an isolated deficiency of<jats:italic>\u03b2<\/jats:italic>\u2010mannosidase activity. At nine months of age dysmorphism was absent except for brachecephaly. There was moderate developmental delay and a startle response to sound. At 12 months there was a sudden onset of tonic\u2010clonic seizures which were unresponsive to drug therapy, requiring paralysis and mechanical ventilation for control. The child died suddenly aged 15 months.<jats:italic>\u03b2<\/jats:italic>\u2010mannosidase activity was markedly reduced in white cells and cultured skin fibroblasts whilst other lysosomal enzymes were normal. The disaccharide ManGlcNAc was excreted in urine but urinary mucopolysaccharides were normal.<\/jats:p>","DOI":"10.1007\/bf01804383","type":"journal-article","created":{"date-parts":[[2005,6,27]],"date-time":"2005-06-27T23:58:36Z","timestamp":1119916716000},"page":"18-22","source":"Crossref","is-referenced-by-count":31,"title":["\u03b2\u2010Mannosidase deficiency in a female infant with epileptic encephalopathy"],"prefix":"10.1002","volume":"14","author":[{"given":"A.","family":"Cooper","sequence":"first","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital  Pendlebury, Manchester M27 1HA UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. E.","family":"Wraith","sequence":"additional","affiliation":[{"name":"Willink Biochemical Genetics Unit Royal Manchester Children's Hospital  Pendlebury, Manchester M27 1HA UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. 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