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Deoxyribose-5-phosphate aldolase deficiency — A harmless inborn error of metabolism

✍ Scribed by A. Chappel; R. D. Scholem; G. K. Brown; R. M. Truscott; R. G. H. Cotton; E. A. Haan; D. M. Danks

Publisher: Springer
Year: 1983
Tongue: English
Weight: 416 KB
Volume: 6
Category: Article
ISSN: 0141-8955
DOI: 10.1007/bf01800736

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## 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