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Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Mütze U, Henze L, Schröter J, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Mütze U, et al. Among authors: kolker s. J Inherit Metab Dis. 2023 Nov;46(6):1063-1077. doi: 10.1002/jimd.12653. Epub 2023 Jul 23. J Inherit Metab Dis. 2023. PMID: 37429829
Myotonic dystrophy associated with VACTERL? A case report.
Kölker S, Degen I, Koch MC, Lindner M, Haas D, Hoffmann GF. Kölker S, et al. Neuropediatrics. 2001 Feb;32(1):53-4. doi: 10.1055/s-2001-12220. Neuropediatrics. 2001. PMID: 11318010 No abstract available.
312 results