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Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1.
Zaunseder E, Teinert J, Boy N, Garbade SF, Haupt S, Feyh P, Hoffmann GF, Kölker S, Mütze U, Heuveline V. Zaunseder E, et al. Among authors: hoffmann gf. Int J Neonatal Screen. 2024 Dec 21;10(4):83. doi: 10.3390/ijns10040083. Int J Neonatal Screen. 2024. PMID: 39728403 Free PMC article.
Elevated Soluble ACE2 Activity in Children and Adults After SARS-CoV-2 Exposure Irrespective of Laboratory-Confirmed Infection.
Stich M, Magalhães VG, Bürger F, Garbade SF, Jeltsch K, Mohr K, Haddad A, Elling R, Lang P, Rabsteyn A, Jacobsen EM, Bode SFN, Müller B, Kräusslich HG, Hoffmann GF, Okun JG, Bartenschlager R, Binder M, Janda A, Renk H, Tönshoff B. Stich M, et al. Among authors: hoffmann gf. J Med Virol. 2024 Dec;96(12):e70098. doi: 10.1002/jmv.70098. J Med Virol. 2024. PMID: 39624009 Free PMC article.
Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy Using 1H-Nuclear Magnetic Resonance Metabolic Profiling in Patient-Derived Biofluids.
Saffari A, Niesert M, Cannet C, Blaschek A, Hahn A, Johannsen J, Kockaya M, Kölbel H, Hoffmann GF, Claus P, Kölker S, Müller-Felber W, Roos A, Schara-Schmidt U, Trefz FK, Vill K, Wick W, Weiler M, Okun JG, Ziegler A. Saffari A, et al. Among authors: hoffmann gf. Int J Mol Sci. 2024 Nov 12;25(22):12123. doi: 10.3390/ijms252212123. Int J Mol Sci. 2024. PMID: 39596191 Free PMC article.
Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.
Weiß C, Becker LL, Friese J, Blaschek A, Hahn A, Illsinger S, Schwartz O, Bernert G, Hagen MV, Husain RA, Goldhahn K, Kirschner J, Pechmann A, Flotats-Bastardas M, Schreiber G, Schara U, Plecko B, Trollmann R, Horber V, Wilichowski E, Baumann M, Klein A, Eisenkölbl A, Köhler C, Stettner GM, Cirak S, Hasselmann O, Kaindl AM, Garbade SF, Johannsen J, Ziegler A; SMArtCARE and Swiss-Reg-NMD study group. Weiß C, et al. Lancet Reg Health Eur. 2024 Oct 7;47:101092. doi: 10.1016/j.lanepe.2024.101092. eCollection 2024 Dec. Lancet Reg Health Eur. 2024. PMID: 39434961 Free PMC article.
Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.
Zielonka M, Kölker S, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Druck AC, Ramdhouni N, Göde L, Hoffmann GF, Posset R; Urea Cycle Disorders Consortium (UCDC). Zielonka M, et al. Among authors: hoffmann gf. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108566. doi: 10.1016/j.ymgme.2024.108566. Epub 2024 Aug 19. Mol Genet Metab. 2024. PMID: 39299137 Free article.
618 results