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Letter to the Editors: Concerning "Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state" by Takashi et al. and Letter to the Editors by Ortolano et al.
Schänzer A, Giese K, Viergutz L, Hahn A. Schänzer A, et al. Among authors: hahn a. Mol Genet Metab Rep. 2017 May 16;12:33-34. doi: 10.1016/j.ymgmr.2017.05.005. eCollection 2017 Sep. Mol Genet Metab Rep. 2017. PMID: 28560178 Free PMC article. No abstract available.
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain.
Görlach J, Amsel D, Kölbel H, Grzybowsky M, Rutsch F, Schlierbach H, Vanlander A, Pogatzki-Zahn E, Habig K, Garkisch S, Müller V, Fritz T, Ziegler A, Hahn A, Krämer HH, Van Coster R, Schänzer A. Görlach J, et al. Among authors: hahn a. Muscle Nerve. 2020 Feb;61(2):173-181. doi: 10.1002/mus.26766. Epub 2019 Dec 9. Muscle Nerve. 2020. PMID: 31749205
[Recommendations for gene therapy of spinal muscular atrophy with onasemnogene abeparvovec-AVXS-101 : Consensus paper of the German representatives of the Society for Pediatric Neurology (GNP) and the German treatment centers with collaboration of the medical scientific advisory board of the German Society for Muscular Diseases (DGM)].
Ziegler A, Wilichowski E, Schara U, Hahn A, Müller-Felber W, Johannsen J, von der Hagen M, von Moers A, Stoltenburg C, Saffari A, Walter MC, Husain RA, Pechmann A, Köhler C, Horber V, Schwartz O, Kirschner J. Ziegler A, et al. Among authors: hahn a. Nervenarzt. 2020 Jun;91(6):518-529. doi: 10.1007/s00115-020-00919-8. Nervenarzt. 2020. PMID: 32394004 Review. German.
1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
Saffari A, Cannet C, Blaschek A, Hahn A, Hoffmann GF, Johannsen J, Kirsten R, Kockaya M, Kölker S, Müller-Felber W, Roos A, Schäfer H, Schara U, Spraul M, Trefz FK, Vill K, Wick W, Weiler M, Okun JG, Ziegler A. Saffari A, et al. Among authors: hahn a. Orphanet J Rare Dis. 2021 Oct 20;16(1):441. doi: 10.1186/s13023-021-02075-x. Orphanet J Rare Dis. 2021. PMID: 34670613 Free PMC article.
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study.
Weiß C, Ziegler A, Becker LL, Johannsen J, Brennenstuhl H, Schreiber G, Flotats-Bastardas M, Stoltenburg C, Hartmann H, Illsinger S, Denecke J, Pechmann A, Müller-Felber W, Vill K, Blaschek A, Smitka M, van der Stam L, Weiss K, Winter B, Goldhahn K, Plecko B, Horber V, Bernert G, Husain RA, Rauscher C, Trollmann R, Garbade SF, Hahn A, von der Hagen M, Kaindl AM. Weiß C, et al. Among authors: hahn a. Lancet Child Adolesc Health. 2022 Jan;6(1):17-27. doi: 10.1016/S2352-4642(21)00287-X. Epub 2021 Oct 29. Lancet Child Adolesc Health. 2022. PMID: 34756190
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.
Holzwarth J, Minopoli N, Pfrimmer C, Smitka M, Borrel S, Kirschner J, Muschol N, Hartmann H, Hennermann JB, Neubauer BA, Hobbiebrunken E, Husain RA, Hahn A. Holzwarth J, et al. Among authors: hahn a. Neuropediatrics. 2022 Feb;53(1):39-45. doi: 10.1055/s-0041-1735250. Epub 2021 Dec 1. Neuropediatrics. 2022. PMID: 34852371
1,940 results