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617 results

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Page 1
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: hoffmann gf. 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
50 years of newborn screening.
Hoffmann GF, Lindner M, Loeber JG. Hoffmann GF, et al. J Inherit Metab Dis. 2014 Mar;37(2):163-4. doi: 10.1007/s10545-014-9688-5. J Inherit Metab Dis. 2014. PMID: 24526389 No abstract available.
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S. Boy N, et al. Among authors: hoffmann gf. Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29665094
Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening.
Mütze U, Garbade SF, Gramer G, Lindner M, Freisinger P, Grünert SC, Hennermann J, Ensenauer R, Thimm E, Zirnbauer J, Leichsenring M, Gleich F, Hörster F, Grohmann-Held K, Boy N, Fang-Hoffmann J, Burgard P, Walter M, Hoffmann GF, Kölker S. Mütze U, et al. Among authors: hoffmann gf. Pediatrics. 2020 Nov;146(5):e20200444. doi: 10.1542/peds.2020-0444. Epub 2020 Oct 13. Pediatrics. 2020. PMID: 33051224
617 results