Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism
2006/02/03 by Jörn Oliver Sass, Verena Mohr, Heike Olbrich +16 · 27 citations
Medicine · Biochemistry, Genetics and Molecular Biology · #Peptidase Inhibition and Analysis #Ubiquitin and proteasome pathways #Glycosylation and Glycoproteins Research
paper · pdf · doi:10.1086/500563
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