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KMID : 0918520010010010023
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Journal of the Korean Society of Inherited Metabolic Disease
2001 Volume.1 No. 1 p.23 ~ p.27
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A Korean patient with Fanconi-Bichel Syndrome Presenting with Transient Neonatal Diabetes Mellitus and Galactosemia : Identification of a Novel Mutation in the GLUT2 Gene
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유한욱/Han Wook Yoo
서을주/김구환/Eul Ju Seo/Gu Hwan Kim
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Abstract
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Fanconi-Bichel syndrome; Transient diabetes mellitus; Galactosemia; GLUT2 gene; novel mutation; Proximal renal tubular dysfunction;
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KEYWORD
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