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103 results

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Page 1
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Wasserstein MP, Lachmann R, Hollak C, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Hennermann JB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Thurberg BL, Yarramaneni A, Armstrong NM, Kim Y, Kumar M. Wasserstein MP, et al. Among authors: hennermann jb. Orphanet J Rare Dis. 2023 Dec 2;18(1):378. doi: 10.1186/s13023-023-02983-0. Orphanet J Rare Dis. 2023. PMID: 38042851 Free PMC article.
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
Kishnani PS, Diaz-Manera J, Toscano A, Clemens PR, Ladha S, Berger KI, Kushlaf H, Straub V, Carvalho G, Mozaffar T, Roberts M, Attarian S, Chien YH, Choi YC, Day JW, Erdem-Ozdamar S, Illarioshkin S, Goker-Alpan O, Kostera-Pruszczyk A, van der Ploeg AT, An Haack K, Huynh-Ba O, Tammireddy S, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group. Kishnani PS, et al. JAMA Neurol. 2023 Jun 1;80(6):558-567. doi: 10.1001/jamaneurol.2023.0552. JAMA Neurol. 2023. PMID: 37036722 Free PMC article. Clinical Trial.
[Lysosomal storage disorders - Fabry disease and Gaucher disease].
Segura Schmitz L, Hennermann JB, Lollert A. Segura Schmitz L, et al. Among authors: hennermann jb. Dtsch Med Wochenschr. 2024 Oct;149(21):1263-1269. doi: 10.1055/a-2295-1592. Epub 2024 Oct 9. Dtsch Med Wochenschr. 2024. PMID: 39384207 Review. German.
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: hennermann jb. 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.
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Guffon N, Burton BK, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez MA, Jayakar P, Lund AM, Tal G, Garcia-Ortiz JE, Stepien KM, Ellaway C, Al-Hertani W, Giugliani R, Cathey SS, Hennermann JB, Lampe C, McNutt M, Lagler FB, Scarpa M, Sutton VR, Muschol N. Guffon N, et al. Among authors: hennermann jb. Mol Genet Metab. 2024 Aug;142(4):108519. doi: 10.1016/j.ymgme.2024.108519. Epub 2024 Jun 23. Mol Genet Metab. 2024. PMID: 39024860 Free article.
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
Mengler K, Garbade SF, Gleich F, Thimm E, May P, Lindner M, Lüsebrink N, Marquardt T, Hübner V, Krämer J, Neugebauer J, Beblo S, Gillitzer C, Grünert SC, Hennermann JB, Kamrath C, Marquardt I, Näke A, Murko S, Schmidt S, Schnabel E, Lommer-Steinhoff S, Hoffmann GF, Beime J, Santer R, Kölker S, Mütze U. Mengler K, et al. Among authors: hennermann jb. Pediatrics. 2024 Aug 1;154(2):e2023064370. doi: 10.1542/peds.2023-064370. Pediatrics. 2024. PMID: 38957900
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program.
Giugliani R, Gonzalez-Meneses A, Scarpa M, Burton B, Wang R, Martins E, Oussoren E, Hennermann JB, Chabrol B, Grant CL, Sun A, Durand C, Hetzer J, Malkus B, Marsden D, Merritt Ii JL. Giugliani R, et al. Among authors: hennermann jb. Orphanet J Rare Dis. 2024 May 7;19(1):189. doi: 10.1186/s13023-024-03176-z. Orphanet J Rare Dis. 2024. PMID: 38715031 Free PMC article.
103 results