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Page 1
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.
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. Among authors: hoffmann gf. J Inherit Metab Dis. 2024 Aug 27. doi: 10.1002/jimd.12784. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39189622
Secondary use of patient data within decentralized studies using the example of rare diseases in Germany: A data scientist's exploration of process and lessons learned.
Zoch M, Gierschner C, Andreeff AK, Henke E, Sedlmayr M, Müller G, Tippmann J, Hebestreit H, Choukair D, Hoffmann GF, Fritz-Kebede F, Toepfner N, Berner R, Biergans S, Verbücheln R, Schaaf J, Fleck J, Wirth FN, Schepers J, Prasser F. Zoch M, et al. Among authors: hoffmann gf. Digit Health. 2024 Aug 10;10:20552076241265219. doi: 10.1177/20552076241265219. eCollection 2024 Jan-Dec. Digit Health. 2024. PMID: 39130526 Free PMC article.
Vitamin B12 Deficiency Newborn Screening.
Mütze U, Gleich F, Haas D, Urschitz MS, Röschinger W, Janzen N, Hoffmann GF, Garbade SF, Syrbe S, Kölker S. Mütze U, et al. Among authors: hoffmann gf. Pediatrics. 2024 Aug 1;154(2):e2023064809. doi: 10.1542/peds.2023-064809. Pediatrics. 2024. PMID: 39040028
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF See abstract for full author list ➔ Schmidt A, et al. Among authors: hoffmann gf. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
615 results