For the quantification of the low-concentration metabolite phenylalanine (Phe) in patients with phenylketonuria using 1H magnetic resonance spectroscopy, optimal acquisition parameters and fitting procedures are crucial. Using a large voxel size and short TE helps to increase the signal-to-noise-ratio and allows restriction to a measurement time of 12min. Using the comparison of healthy controls vs. patients affords modeling of the unknown downfield region to develop a robust fitting model. Low CRLB of around 0.004mM proved the good precision of the quantification results, yielding cohort values of 0.019±0.01mM in controls and 0.142±0.02mM in patients.
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