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Recently, several patients with abnormal polyol profiles in body fluids have been reported, but the origins of these polyols are unknown. We hypothesized that they are derived from sugar phosphate intermediates of the pentose phosphate pathway (PPP), and we developed a semiquantitative method for profiling of pentose phosphate pathway intermediates.

Profiling of Pentose Phosphate Pathway Intermediates in Blood Spots by Tandem Mass Spectrometry: Application to Transaldolase Deficiency