The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry.

@article{Kishikawa2002ThePH,
  title={The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry.},
  author={Masahiko Kishikawa and J{\"o}rn Oliver Sass and Nobuo Sakura and Toyofumi Nakanishi and Akira Shimizu and Masanori Yoshioka},
  journal={Biochimica et biophysica acta},
  year={2002},
  volume={1588 2},
  pages={135-8}
}
Molybdenum cofactor deficiency is a fatal neurological disorder, which follows an autosomal-recessive trait and is characterized by combined deficiency of the enzyme, sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase. Early detection of molybdenum cofactor-deficient patients is essential for their proper care and genetic counseling of families at risk. We demonstrate the use of S-sulfonated transthyretin (TTR) as a marker for molybdenum cofactor deficiency. Plasma or sera obtained… CONTINUE READING