{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:55:08Z","timestamp":1761101708034},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,5,18]],"date-time":"2004-05-18T00:00:00Z","timestamp":1084838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2004,6]]},"abstract":"<jats:p>Glycogen storage disease type Ia (GSD Ia; MIM 232200) is an autosomal recessive inherited metabolic disorder resulting from a deficiency of the microsomal glucose\u20106\u2010phosphatase (G6Pase), the enzyme that catalyzes the terminal step in gluconeogenesis and glycogenolysis. Various mutations in the G6Pase gene (<jats:italic>G6PC<\/jats:italic>) have been found in patients with GSD Ia. To elucidate the spectrum of the <jats:italic>G6PC<\/jats:italic> gene mutations, 13 unrelated Korean patients with GSD Ia were analyzed. We were able to identify mutant alleles in all patients, including three known mutations (727G\u2003&gt;\u2003T, G122D, and T255I) and two novel mutations (P178A and Y128X). The frequency of the 727G\u2003&gt;\u2003T mutation in Korean patients with GSD Ia was 81% (21\/26), which was slightly lower than that (86\u201392%) in Japanese but much higher than that (44.4%) in Taiwan Chinese. Except one, all patients were either homozygous (9\/13) or compound heterozygous (3\/13) for the 727G\u2003&gt;\u2003T mutation; the only patient without the 727G\u2003&gt;\u2003T mutation was a compound heterozygote for the G122D and Y128X mutations. Our findings suggest that a DNA\u2010based test can be used as the initial diagnostic approach in Korean patients clinically suspected to have GSD Ia, thereby avoiding invasive liver biopsy.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00260.x","type":"journal-article","created":{"date-parts":[[2004,5,18]],"date-time":"2004-05-18T09:04:14Z","timestamp":1084871054000},"page":"487-489","source":"Crossref","is-referenced-by-count":13,"title":["Mutation spectrum of the glucose\u20106\u2010phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia"],"prefix":"10.1111","volume":"65","author":[{"given":"C\u2010S","family":"Ki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u2010H","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u2010J","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u2010G","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E\u2010J","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u2010W","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YH","family":"Choe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JK","family":"Seo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YJ","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JY","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,5,18]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02679990"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3179"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02679989"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8211187"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051281"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1026777106212"},{"key":"e_1_2_5_8_2","first-page":"549","article-title":"Exon redefinition by a point mutation within exon 5 of the glucose\u20106\u2010phosphatase gene is the major cause of glycogen storage disease type 1a in Japan","volume":"57","author":"Kajihara S","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<107::AID-AJMG5>3.0.CO;2-Y"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02449.x"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2000.3129"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80542-5"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.20.11882"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2004.00260.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2004.00260.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T16:01:32Z","timestamp":1697212892000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2004.00260.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,18]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["10.1111\/j.1399-0004.2004.00260.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00260.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,18]]}}}