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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

Afshin Saffari, Moritz Niesert,Claire Cannet,Astrid Blaschek,Andreas Hahn,Jessika Johannsen,Musa Kockaya,Heike Koelbel,Georg F. Hoffmann,Peter Claus,Stefan Koelker,Wolfgang Mueller-Felber,Andreas Roos,Ulrike Schara-Schmidt,Friedrich K. Trefz,Katharina Vill,Wolfgang Wick,Markus Weiler,Juergen G. Okun,Andreas Ziegler

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES（2024）

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Key words
spinal muscular atrophy,H-1-NMR spectroscopy,metabolic profiling,metabolomics
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