{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T05:20:00Z","timestamp":1774675200619,"version":"3.50.1"},"reference-count":29,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Chemistry and Laboratory Medicine"],"published-print":{"date-parts":[[2010,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>\n                  <jats:bold>Background:<\/jats:bold> Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder, and diagnosis depends on genetic testing. Recently, microarray analysis has become a useful new technique for mutation analysis. We developed a GSD Ia microarray capable of identifying known mutations in the <jats:italic>G6PC<\/jats:italic> gene and validate the feasibility of using it as a rapid detection method for DNA-based diagnosis.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> An approach based on universal DNA microarray (UA) and ligase detection reaction (LDR) was used. Fifteen mutations and one polymorphism were detected in this microarray. A total of 102 DNA samples from GSD Ia patients were tested.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> The genotypes obtained using the DNA microarray were in full agreement with those obtained by direct sequencing. For each mutation, wild-type homozygote, heterozygote, and mutant-type homozygote were typed correctly into three groups.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> The shortened assay time and high specifi-city validated by 102 GSD Ia patients suggest that the GSD Ia microarray has the potential to become an efficient, rapid detection method for DNA-based diagnosis and carrier detection.<\/jats:p>\n               <jats:p>Clin Chem Lab Med 2010;48:1229\u201334.<\/jats:p>","DOI":"10.1515\/cclm.2010.244","type":"journal-article","created":{"date-parts":[[2010,5,31]],"date-time":"2010-05-31T11:53:31Z","timestamp":1275306811000},"page":"1229-1234","source":"Crossref","is-referenced-by-count":7,"title":["Rapid detection of glycogen storage disease type Ia by DNA microarray"],"prefix":"10.1515","volume":"48","author":[{"given":"Shanshan","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shengying","family":"Qin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuefan","family":"Gu","sequence":"additional","affiliation":[{"name":"Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjuan","family":"Qiu","sequence":"additional","affiliation":[{"name":"Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Ye","sequence":"additional","affiliation":[{"name":"Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lianshu","family":"Han","sequence":"additional","affiliation":[{"name":"Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"He","sequence":"additional","affiliation":[{"name":"Bio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai, P.R. 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