Publications:

1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.

Orphanet Journal Of Rare Diseases

Saffari, Afshin A; Cannet, Claire C; Blaschek, Astrid A; Hahn, Andreas A; Hoffmann, Georg F GF; Johannsen, Jessika J; Kirsten, Romy R; Kockaya, Musa M; Kölker, Stefan S; Müller-Felber, Wolfgang W; Roos, Andreas A; Schäfer, Hartmut H; Schara, Ulrike U; Spraul, Manfred M; Trefz, Friedrich K FK; Vill, Katharina K; Wick, Wolfgang W; Weiler, Markus M; Okun, Jürgen G JG; Ziegler, Andreas A

Publication Date: 2021-10-20

Variant appearance in text: SMA: 46delG

PubMed Link: 34670613

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2075.pdf

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