Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze U, Henze L, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Blessing H, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt T, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Keller M, Walter M, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S.
Mütze U, et al. Among authors: beblo s.
J Inherit Metab Dis. 2021 Jul;44(4):857-870. doi: 10.1002/jimd.12364. Epub 2021 Feb 7.
J Inherit Metab Dis. 2021.
PMID: 33496032