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Aminoacylase I deficiency: A novel inborn error of metabolism

โœ Scribed by R.N. Van Coster; E.A. Gerlo; T.G. Giardina; U.F. Engelke; J.E. Smet; C.M. De Praeter; V.A. Meersschaut; L.J. De Meirleir; S.H. Seneca; B. Devreese; J.G. Leroy; S. Herga; J.P. Perrier; R.A. Wevers; W. Lissens


Book ID
116291715
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
141 KB
Volume
338
Category
Article
ISSN
0006-291X

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ฮฒ-Ureidopropionase deficiency: A novel i
โœ Sytske H. Moolenaar; Gudrun Gรถhlich-Ratmann; Udo F.H. Engelke; Manfred Spraul; E ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 125 KB

## Abstract In this work, NMR investigations that led to the discovery of a new inborn error of metabolism, ฮฒโ€ureidopropionase (UP) deficiency, are reported. 1D ^1^Hโ€NMR experiments were performed using a patient's urine. 3โ€Ureidopropionic acid was observed in elevated concentrations in the urine s