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Institute of Metabolic Disease at Baylor Research Institute
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Xiaowei Fu, Ph.D., M.D.
Assistant Director, Mass Spectrometry Laboratory
Contact Information:
Phone: 214-820-4751
Education:
M.D. China Medical University, China
Ph.D. Shimane Medical University, Japan
American Board of Medical Genetics eligible Clinical Biochemical Geneticist
Research Interests:
• Develop new technologies on diagnosis of inborn errors of metabolism
• Understand the mechanisms of neurotoxicity in inborn errors of metabolism
Current Research:
• Biochemical responses (organic acids and acylcarnitines) in clinical studies of triheptanoin (anaplerotic substrate) for nutritional therapy of long-chain fatty acid oxidation disorders
• Develop HPLC MS/MS assays for different isomers of acylcarnitines for different diagnosis of abnormal elevations seen in tandem MS newborn screening
Representative Publications:
Fu X, Rinaldo P, Hahn S.H., Kodama H., and Packman S. (2003) Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies, and copper deficiency phenotypes. J Inherit. Metab. Dis. 26: 55-56.
Fu X, Kimura M, Iga M, Yamaguchi S. (2001) Gas chromatographic-mass spectrometric screening for organic acidemias using dried urine filter paper: determination of alpha-ketoacids. J Chromatogr B Biomed Sci Appl 758(1): 87-94.
Fu X, Iga M, Kimura M, Yamaguchi S.(2000) Simplified screening for organic academia using GC/MS and dried urine filter paper: a study on neonatal mass screening. Early Hum Dev. 58(1):41-55.
Ohie T, Fu X, Iga M, Kimura M, Yamaguchi S. (2000) Gas chromatography-mass spectrometry with tert-butyldimethylsilyl derivation: user of the simplified sample preparations and the automated data system to screen for organic acidemias. J Chromatogr B Biomed Sci Appl. 746(1):63-73. |
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