- A Novel Mutation (A148V) in the Glucose 6-phosphate Translocase (SLC37A4) Gene in a Korean Patient with Glycogen Storage Disease Type 1b
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Han SH, Ki CS, Lee JE, Hong YJ, Son BK, Lee KH, Choe YH, Lee SY, Kim JW
- KMID: 1778514
- J Korean Med Sci.
- 2005 Jun;20(3):499-501.
- doi: 10.3346/jkms.2005.20.3.499
We report a Korean patient with glycogen storage disease type 1b (GSD-1b) whose diagnosis was confirmed by liver biopsy and laboratory results. The patient presented with delay of puberty and... -
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