## Abstract In this work, NMR investigations that led to the discovery of a new inborn error of metabolism, β‐ureidopropionase (UP) deficiency, are reported. 1D ^1^H‐NMR experiments were performed using a patient's urine. 3‐Ureidopropionic acid was observed in elevated concentrations in the urine s
✦ LIBER ✦
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism
✍ Scribed by Udo F. H. Engelke; Jörn Oliver Sass; Rudy N. Van Coster; Erik Gerlo; Heike Olbrich; Stefan Krywawych; Jacqui Calvin; Claire Hart; Heymut Omran; Ron A. Wevers
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 175 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0952-3480
- DOI
- 10.1002/nbm.1170
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