{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T09:59:24Z","timestamp":1785491964399,"version":"3.56.0"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,7,1]],"date-time":"2014-07-01T00:00:00Z","timestamp":1404172800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1007\/s00431-014-2354-y","type":"journal-article","created":{"date-parts":[[2014,6,30]],"date-time":"2014-06-30T01:07:38Z","timestamp":1404090458000},"page":"59-63","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia"],"prefix":"10.1007","volume":"174","author":[{"given":"Bi-Xia","family":"Zheng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,7,1]]},"reference":[{"issue":"3","key":"2354_CR1","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1016\/j.ymgme.2004.06.010","volume":"83","author":"CJ Angaroni","year":"2004","unstructured":"Angaroni CJ, de Kremer RD, Argarana CE, Paschini-Capra AE, Giner-Ayala AN, Pezza RJ, Pan CJ, Chou JY (2004) Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability. Mol Genet Metab 83(3):276\u2013279. doi: 10.1016\/j.ymgme.2004.06.010","journal-title":"Mol Genet Metab"},{"issue":"5","key":"2354_CR2","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/pd.166","volume":"22","author":"YT Chen","year":"2002","unstructured":"Chen YT, Bali D, Sullivan J (2002) Prenatal diagnosis in glycogen storage diseases. Prenat Diagn 22(5):357\u2013359. doi: 10.1002\/pd.166","journal-title":"Prenat Diagn"},{"issue":"1","key":"2354_CR3","doi-asserted-by":"crossref","first-page":"25","DOI":"10.2174\/1566524013364112","volume":"1","author":"JY Chou","year":"2001","unstructured":"Chou JY (2001) The molecular basis of type 1 glycogen storage diseases. Curr Mol Med 1(1):25\u201344","journal-title":"Curr Mol Med"},{"issue":"7","key":"2354_CR4","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1002\/humu.20772","volume":"29","author":"JY Chou","year":"2008","unstructured":"Chou JY, Mansfield BC (2008) Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease. Hum Mutat 29(7):921\u2013930. doi: 10.1002\/humu.20772","journal-title":"Hum Mutat"},{"issue":"2","key":"2354_CR5","doi-asserted-by":"crossref","first-page":"121","DOI":"10.2174\/1566524024605798","volume":"2","author":"JY Chou","year":"2002","unstructured":"Chou JY, Matern D, Mansfield BC, Chen YT (2002) Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med 2(2):121\u2013143","journal-title":"Curr Mol Med"},{"issue":"11","key":"2354_CR6","doi-asserted-by":"crossref","first-page":"6144","DOI":"10.1074\/jbc.273.11.6144","volume":"273","author":"CJ Pan","year":"1998","unstructured":"Pan CJ, Lei KJ, Annabi B, Hemrika W, Chou JY (1998) Transmembrane topology of glucose-6-phosphatase. J Biol Chem 273(11):6144\u20136148","journal-title":"J Biol Chem"},{"issue":"1","key":"2354_CR7","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1006\/abbi.1998.0849","volume":"358","author":"CJ Pan","year":"1998","unstructured":"Pan CJ, Lei KJ, Chen H, Ward JM, Chou JY (1998) Ontogeny of the murine glucose-6-phosphatase system. Arch Biochem Biophys 358(1):17\u201324. doi: 10.1006\/abbi.1998.0849","journal-title":"Arch Biochem Biophys"},{"issue":"47","key":"2354_CR8","doi-asserted-by":"crossref","first-page":"47098","DOI":"10.1074\/jbc.M309472200","volume":"278","author":"JJ Shieh","year":"2003","unstructured":"Shieh JJ, Pan CJ, Mansfield BC, Chou JY (2003) A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia. J Biol Chem 278(47):47098\u201347103. doi: 10.1074\/jbc.M309472200","journal-title":"J Biol Chem"},{"issue":"Pt 3","key":"2354_CR9","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1042\/0264-6021:3620513","volume":"362","author":"E Schaftingen van","year":"2002","unstructured":"van Schaftingen E, Gerin I (2002) The glucose-6-phosphatase system. Biochem J 362(Pt 3):513\u2013532","journal-title":"Biochem J"},{"issue":"1","key":"2354_CR10","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1023\/A:1021831621210","volume":"4","author":"JI Wolfsdorf","year":"2003","unstructured":"Wolfsdorf JI, Weinstein DA (2003) Glycogen storage diseases. Rev Endocr Metab Disord 4(1):95\u2013102","journal-title":"Rev Endocr Metab Disord"},{"issue":"3","key":"2354_CR11","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/S1043-2760(98)00123-4","volume":"10","author":"J Yang Chou","year":"1999","unstructured":"Yang Chou J, Mansfield BC (1999) Molecular genetics of type 1 glycogen storage diseases. Trends Endocrinol Metab: TEM 10(3):104\u2013113","journal-title":"Trends Endocrinol Metab: TEM"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-014-2354-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-014-2354-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-014-2354-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,2,26]],"date-time":"2019-02-26T14:15:23Z","timestamp":1551190523000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-014-2354-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["2354"],"URL":"https:\/\/doi.org\/10.1007\/s00431-014-2354-y","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,1]]}}}