Article
Aminoacylase I deficiency: a novel inborn error of metabolism.
Biochemical and biophysical research communications - 23 Dec 2005
Van Coster R N, Gerlo E A, Giardina T G, Engelke U F, Smet J E, De Praeter C M, Meersschaut V A, De Meirleir L J, Seneca S H, Devreese B, Leroy J G, Herga S, Perrier J P, Wevers R A, Lissens W
Abstract excerpt
This is the first report of a patient with aminoacylase I deficiency. High amounts of N-acetylated amino acids were detected by gas chromatography-mass spectrometry in the urine, including the derivatives of serine, glutamic acid, alanine, methionine, glycine, and smaller amounts of threonine, le...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.