Confirmation of the enzyme defect in the first case of beta-ureidopropionase deficiency. Beta-alanine deficiency.
作者信息
van Kuilenburg A B, van Lenthe H, Ratmann G G, Assmann B, Hoffmann G F, Brautigam C, van Gennip A H
机构信息
Academic Medical Center, University of Amsterdam, Emma Children's Hospital, The Netherlands.
出版信息
Adv Exp Med Biol. 2000;486:243-6. doi: 10.1007/0-306-46843-3_47.
PMID:11783492
Abstract
摘要
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