https://scholars.lib.ntu.edu.tw/handle/123456789/526084
標題: | Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations | 作者: | WUH-LIANG HWU Chiang S.-C. Huang S.-F. MEI-HWEI CHANG Wen W.-H. Wang T.-R. |
公開日期: | 1999 | 卷: | 22 | 期: | 8 | 起(迄)頁: | 937-938 | 來源出版物: | Journal of Inherited Metabolic Disease | URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0032754637&doi=10.1023%2fA%3a1005651809892&partnerID=40&md5=dcd419a829ceeb11bd5b52c54b086bc7 https://scholars.lib.ntu.edu.tw/handle/123456789/526084 |
ISSN: | 0141-8955 | DOI: | 10.1023/A:1005651809892 | SDG/關鍵字: | calcium; glucose 6 phosphatase; article; case report; diet; enzyme deficiency; gene mutation; glycogen storage disease type 1; hematuria; human; hypercalcemia; hypercalciuria; infant; liver biopsy; male; newborn; Taiwan; Diet; Glycogen Storage Disease Type I; Humans; Hypercalcemia; Infant, Newborn; Liver; Male; Mutation; Sequence Deletion |
顯示於: | 醫學系 |
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