Recent developments in the investigation of inherited metabolic disorders using cultured human cells.

@article{Roe1999RecentDI,
  title={Recent developments in the investigation of inherited metabolic disorders using cultured human cells.},
  author={Charles R. Roe and Diane S Roe},
  journal={Molecular genetics and metabolism},
  year={1999},
  volume={68 2},
  pages={243-57}
}
Thepurpose of this paper is to share experience with our systems and review recent "in vitro" methods using intact cells (fibroblasts, amniocytes) in which entire metabolic pathways can be probed for inherited metabolic defects reflected by elevations of intermediates determined by tandem mass spectrometry, HPLC, or gas chromatography-mass spectrometry. Currently, one can explore the integrity of mitochondrial fat oxidation, peroxisomal degradation of methyl-branched fatty acids (e.g… CONTINUE READING

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