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Autor:
Georg F. Hoffmann, Esther M. Maier, Maria Arelin, Johannes Weigel, Thorsten Marquardt, Iris Marquardt, Sven F. Garbade, Holger Blessing, Martin Lindner, Magdalena Walter, Eva Thimm, Sarah C. Grünert, Ulrike Mütze, Skadi Beblo, Florian Gleich, Ute Spiekerkoetter, Stefan Kölker, Natalie Weinhold, Johannes Krämer, René Santer, Regina Ensenauer, Lucy Henze, Julia B. Hennermann, Andrea Dieckmann, Katharina A. Schiergens, Mareike Keller, Peter Freisinger
Publikováno v:
Journal of inherited metabolic diseaseREFERENCES. 44(4)
Isovaleric aciduria (IVA), a metabolic disease with severe (classic IVA) or attenuated phenotype (mild IVA), is included in newborn screening (NBS) programs worldwide. The long-term clinical benefit of screened individuals, however, is still rarely i