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Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Reischl-Hajiabadi AT, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, Posset R, Lommer-Steinhoff S, Grünert SC, Thimm E, Freisinger P, Hennermann JB, Krämer J, Gramer G, Lenz D, Christ S, Hörster F, Hoffmann GF, Garbade SF, Kölker S, Mütze U. Reischl-Hajiabadi AT, et al. J Inherit Metab Dis. 2024 Jul;47(4):674-689. doi: 10.1002/jimd.12731. Epub 2024 Apr 2. J Inherit Metab Dis. 2024. PMID: 38563533
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Mütze U, Ottenberger A, Gleich F, Maier EM, Lindner M, Husain RA, Palm K, Beblo S, Freisinger P, Santer R, Thimm E, Vom Dahl S, Weinhold N, Grohmann-Held K, Haase C, Hennermann JB, Hörbe-Blindt A, Kamrath C, Marquardt I, Marquardt T, Behne R, Haas D, Spiekerkoetter U, Hoffmann GF, Garbade SF, Grünert SC, Kölker S. Mütze U, et al. Ann Clin Transl Neurol. 2024 Apr;11(4):883-898. doi: 10.1002/acn3.52002. Epub 2024 Jan 23. Ann Clin Transl Neurol. 2024. PMID: 38263760 Free PMC article.
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.
Schnabel-Besson E, Garbade SF, Gleich F, Grünert SC, Krämer J, Thimm E, Hennermann JB, Freisinger P, Burgard P, Gramer G, Morath MA, Tuncel AT, Keßler S, Hoffmann GF, Kölker S, Mütze U. Schnabel-Besson E, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12784. doi: 10.1002/jimd.12784. Epub 2024 Aug 27. J Inherit Metab Dis. 2025. PMID: 39189622 Free PMC article.