Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using ¹H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.

Second, while we were able to identify highly significant changes in core metabolic pathways within well-annotated regions of the 1 H-NMR spectra, a substantial portion of the spectra contributing to the differences between patients with SMA and healthy controls, as well as SMA subtypes, comprise a non-annotated protein background, which is currently beyond the scope of our method.

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