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Metabolic profiling in Pyruvate Kinase Deficiency
Discussion
In this study we performed untargeted metabolomics on DBS and report for the first time a metabolic disease fingerprint for PKD. By establishing a predictive machine
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learning model, the diagnostic potential of this approach was demonstrated. This metabolic fingerprint has poten- tial to mature into a powerful clinical tool, capable of con- firming or ruling out the diagnosis of PKD. However, the
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Figure 1. Continued on the following page.
haematologica | 2021; 106(10)
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