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1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
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.
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Cannet C, Bayat A, Frauendienst-Egger G, Freisinger P, Spraul M, Himmelreich N, Kockaya M, Ahring K, Godejohann M, MacDonald A, Trefz F.
Cannet C, et al. Among authors: kockaya m.
Molecules. 2023 Jun 22;28(13):4916. doi: 10.3390/molecules28134916.
Molecules. 2023.
PMID: 37446577
Free PMC article.
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