Titre:
  • Aminoacylase I deficiency: A novel inborn error of metabolism
Auteur:Van Coster, Rudy; Smet, Joel; Leroy, Jules; Gerlo, Erik; Giardina, Thierry T.G.; Herga, Sameh; Perrier, Josette J.P.; Engelke, Udo F H U.F.; Wevers, Ron Allan; De Praeter, Claudine C.M.; Meersschaut, Valérie; De Meirleir, Linda; Seneca, Sara; Lissens, Willy; Devreese, Bart
Informations sur la publication:Biochemical and biophysical research communications, 338, 3, page (1322-1326)
Statut de publication:Publié, 2005-12
Sujet CREF:Biophysique
Biologie moléculaire
Biologie cellulaire
Biochimie
Mots-clés:Aminoacylase I
Enzyme deficiency
Laminar cortical necrosis
Messenger RNA
Mutation analysis
N-acetylated amino acids
N-acetylated proteins
Newborn
Protein expression study
Western blotting
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0006-291X
info:doi/10.1016/j.bbrc.2005.10.126
info:pii/S0006291X05024216
info:scp/27744459327
info:pmid/16274666