Publications Inborn Errors of Metabolism / Rare Diseases

Holmes E, Foxall P D, Spraul M, Farrant D, Nicholson J K, Lindon C        750 MHz 1H NMR spectroscopy characterisation of the complex metabolic pattern of urine from patients with inborn errors of metabolism: 2-hydroxyglutaric aciduria and maple syrup urine disease J Pharm Biomed Anal. 1997 Jul;15(11):1647-59. DOI: 10.1016/S0731-7085(97)00066-6

Maria Constantinou M A, Papakonstantinou E, Spraul M, Sevastiadou S, Costalos C, Koupparis M A, Shulpis K, Tsantili-Kakoulidou A, Mikros E 1H NMR-based metabonomics for the diagnosis of inborn errors of metabolism in urine Anal. Chim. Acta Vol. 542, Issue 2, 2005, 169-177 DOI: 10.1016/j.aca.2005.03.059

Aygen S, Dürr U, Hegele P, Kunig J,  Spraul M, Schäfer H, Krings D,  Cannet C, Fang F, Schütz B,  Bulb S, Aydin I,  Umit Sar S, Yalaz M, Örs R, Atalan R, Tuncer O NMR-Based Screening for Inborn Errors of Metabolism: Initial Results from a Study on Turkish Neonates, JIMD Reports Volume 16, 101–111 DOI: 10.1007/8904_2014_326

Saffari A, Cannet C, Blaschek A, Hahn A, Hoffmann G F, Johannsen J,
Kirsten R, Kockaya M, Kölker S, Müller‑Felber W, Roos A, Schäfer H,
Schara U, Spraul M, Trefz F K, Vill K, Wick W, Weiler M, Okun J G and Ziegler A 1H‑NMR‑based metabolic profiling identifies non‑invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy Orphanet J Rare Dis (2021) 16:441 DOI: 10.1186/s13023-021-02075-x

Cannet C, Frauendienst-Egger G, Freisinger P,Götz H,Götz M, Himmelreich N,Vanessa Kock, Spraul M, Bus C, Biskup S, Trefz F 1H-NMR ex vivo analysis of Inborn Errors of Metabolism (IEM): automatic and computer assisted analyses doi: 10.1002/nbm.4853