1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
Saffari A, Cannet C, Blaschek A, Hahn A, Hoffmann GF, Johannsen J, Kirsten R, Kockaya M, Kölker S, Müller-Felber W, Roos A, Schäfer H, Schara U, Spraul M, Trefz FK, Vill K, Wick W, Weiler M, Okun JG, Ziegler A.
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Orphanet J Rare Dis. 2021 Oct 20;16(1):441. doi: 10.1186/s13023-021-02075-x.
Orphanet J Rare Dis. 2021.
PMID: 34670613
Free PMC article.