{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:27:40Z","timestamp":1777868860709,"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>Glycogen storage diseases (GSD) type lb is the first example of a genetic disorder\ninvolving the transport system of an intracellular membrane. It was revealed that the\nprimary defect in GSD type lb was a deficiency in the microsomal glucose-6-phosphate\n(G6P) translocase, based on the findings that the glucose-6-phosphatase activity was highly\nlatent in the fresh liver homogenates. Further evidence of this defect in GSD type lb has\nbeen provided by a membrane filter method which measures the uptake of ^14 UC-G6P by\nmicrosomes. The clinical symptoms and enzymatic studies in our patients suggest that there\nis genetic heterogeneity in GSD lb and the clinical severity depends on the level of residual\nactivities of G6P translocase.<\/jats:p>","DOI":"10.1159\/000469203","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T17:22:23Z","timestamp":1502472143000},"page":"177-183","source":"Crossref","is-referenced-by-count":8,"title":["Glycogen Storage Disease Type lb: Genetic Disorder\nInvolving the Transport System of Intracellular Membrane"],"prefix":"10.1159","author":[{"given":"Kuniaki","family":"Narisawa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yutaka","family":"Igarashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiya","family":"Tada","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\/000469203","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T12:47:24Z","timestamp":1777553244000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000469203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,11]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000469203","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]]}}}