Anal Bioanal Chem. 2007 Jan;387(2):539-49. Epub 2006 Jul 5.
Pan Z, Gu H, Talaty N, Chen H, Shanaiah N, Hainline BE, Cooks RG, Raftery D.
This article provides further support to the idea that perhaps, in the future, we will be performing part of the screening for inborn errors of metabolism by nuclear magnetic resonance (NMR). In this article, the authors used NMR and desorption electrospray ionization mass spectrometry to succesfully identify abnormal concentrations of metabolites in samples from patients with samples from individual patients with argininosuccinic aciduria, classic homocystinuria, classic methylmalonic acidemia, maple syrup urine disease, phenylketonuria and tyrosinemia type II.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator