Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

122 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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. Among authors: garbade sf. 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.
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.
Himmelreich N, Ramón-Maiques S, Navarrete R, Castejon-Fernandez N, Garbade SF, Martinez A, Desviat LR, Pérez B, Blau N. Himmelreich N, et al. Among authors: garbade sf. Mol Genet Metab. 2024 Jul;142(3):108514. doi: 10.1016/j.ymgme.2024.108514. Epub 2024 Jun 13. Mol Genet Metab. 2024. PMID: 38905920 Free article.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: garbade sf. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
Carnosinase-1 Knock-Out Reduces Kidney Fibrosis in Type-1 Diabetic Mice on High Fat Diet.
Pfeffer T, Wetzel C, Kirschner P, Bartosova M, Poth T, Schwab C, Poschet G, Zemva J, Bulkescher R, Damgov I, Thiel C, Garbade SF, Klingbeil K, Peters V, Schmitt CP. Pfeffer T, et al. Among authors: garbade sf. Antioxidants (Basel). 2023 Jun 14;12(6):1270. doi: 10.3390/antiox12061270. Antioxidants (Basel). 2023. PMID: 37372000 Free PMC article.
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.
Nettesheim S, Kölker S, Karall D, Häberle J, Posset R, Hoffmann GF, Heinrich B, Gleich F, Garbade SF; Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU). Nettesheim S, et al. Among authors: garbade sf. Orphanet J Rare Dis. 2017 Jun 15;12(1):111. doi: 10.1186/s13023-017-0661-x. Orphanet J Rare Dis. 2017. PMID: 28619060 Free PMC article.
122 results