Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.

@article{Inoue2002RapidAS,
  title={Rapid and sensitive method for prenatal diagnosis of propionic acidemia using stable isotope dilution gas chromatography-mass spectrometry and urease pretreatment.},
  author={Yoshito Inoue and Tomiko Kuhara},
  journal={Journal of chromatography. B, Analytical technologies in the biomedical and life sciences},
  year={2002},
  volume={776 1},
  pages={
          71-7
        }
}
  • Y. Inoue, T. Kuhara
  • Published 25 August 2002
  • Biology
  • Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
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References

SHOWING 1-5 OF 5 REFERENCES
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis.
TLDR
A new method for screening IEM using GC/MS, which enables accurate chemical diagnoses through urinary analyses with a simple practical procedure, and is quite comprehensive and different from conventional GC/ MS organic acidemia screening procedures, which are not well-suited to detect metabolic disorders except organic acidurias.
Pitfalls in the prenatal diagnosis of propionic acidemia
TLDR
Chosome variant analysis demonstrated that between passage two and four overgrowth of the female fetal cells by contaminating maternal cells led to the “false negative” results obtained by enzyme assay, demonstrating the value of analysis of abnormal metabolites in amniotic fluid.
Prenatal diagnosis of inherited metabolic disorders by quantitation of characteristic metabolites in amniotic fluid: Facts and future
An attempt is made to summarize as completely as possible what is known about the prenatal diagnosis of amino– and organic acidurias by direct measurement of characteristic metabolites in amniotic