{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:41Z","timestamp":1777868861786,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T00:00:00Z","timestamp":1502409600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Enzyme"],"abstract":"<jats:p>\u03b1-Glucosidase is deficient (&lt; 30% of control) in Pompe\u2019s disease, but the extent\nof the deficiency does not always correlate with the severity of the clinical symptoms. The\ndefects that lead to a deficiency of a-glucosidase include synthesis of catalytically inactive\nprotein, absence of mRNA for the enzyme, decreased synthesis of the precursor, lack of\nphosphorylation of the precursor, impaired conversion of the precursor to the mature\nenzyme and synthesis of unstable precursor. A single type of defect can lead to different\nclinical phenotypes. The precursor of \u03b1-glucosidase is present in the brush border of the\npolarized epithelial cells of small intestine and kidney and is secreted into urine.<\/jats:p>","DOI":"10.1159\/000469217","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:22:23Z","timestamp":1502472143000},"page":"280-285","source":"Crossref","is-referenced-by-count":12,"title":["\u03b1-Glucosidase Deficiency (Pompe\u2019s Disease)"],"prefix":"10.1159","author":[{"given":"J. M.","family":"Tager","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. P. J.","family":"Oude Elferink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Reuser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Kroos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. A.","family":"Ginsel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. A. M.","family":"Fransen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Klumperman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,11]]},"container-title":["Enzyme"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000469217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:47:32Z","timestamp":1777553252000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000469217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000469217","archive":["Portico"],"relation":{},"ISSN":["0013-9432","2504-2564"],"issn-type":[{"value":"0013-9432","type":"print"},{"value":"2504-2564","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,11]]}}}