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Rapid, simplified and sensitive method for screening fructose-1,6-diphosphatase deficiency by analyzing urinary metabolites in urease/direct preparations and gas chromatography-mass spectrometry in the selected-ion monitoring mode.
Iga M, Kimura M, Ohura T, Kikawa Y, Yamaguchi S. Iga M, et al. Among authors: yamaguchi s. J Chromatogr B Biomed Sci Appl. 2000 Sep 1;746(1):75-82. doi: 10.1016/s0378-4347(00)00123-7. J Chromatogr B Biomed Sci Appl. 2000. PMID: 11048742
Glycerol kinase deficiency: evidence for complexity in a single gene disorder.
Dipple KM, Zhang YH, Huang BL, McCabe LL, Dallongeville J, Inokuchi T, Kimura M, Marx HJ, Roederer GO, Shih V, Yamaguchi S, Yoshida I, McCabe ER. Dipple KM, et al. Among authors: yamaguchi s. Hum Genet. 2001 Jul;109(1):55-62. doi: 10.1007/s004390100545. Hum Genet. 2001. PMID: 11479736
5,378 results