{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T14:51:31Z","timestamp":1783695091105,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1999,4,1]],"date-time":"1999-04-01T00:00:00Z","timestamp":922924800000},"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":[[1999,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose\u20106\u2010phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemical features of three GSD1a siblings of a Muslim Arab family with a G270V mutation. Two older patients presented with an unusually mild clinical and biochemical course.<\/jats:p>","DOI":"10.1023\/a:1005445802822","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T22:25:23Z","timestamp":1040509523000},"page":"149-154","source":"Crossref","is-referenced-by-count":5,"title":["Glycogen storage disease type 1a in three siblings with the G270V mutation"],"prefix":"10.1002","volume":"22","author":[{"given":"R.","family":"Parvari","sequence":"first","affiliation":[{"name":"Genetic Institute Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University  Beer Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Isam","sequence":"additional","affiliation":[{"name":"School of Nursing Jerusalem University  East Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. W.","family":"Moses","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University  Beer Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1999,4]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1854","volume-title":"Harrison\u00cfs Principles of Internal Medicine","author":"Beaudet AL","year":"1991"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072092"},{"key":"e_1_2_1_4_1","first-page":"925","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chen Y\u2010T","year":"1995"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198801073180102"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.5.358"},{"key":"e_1_2_1_7_1","first-page":"641","article-title":"Long\u2010term course of hepatic glycogenosis. 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