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125 results

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Page 1
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Kožich V, Schwahn BC, Sokolová J, Křížková M, Ditroi T, Krijt J, Khalil Y, Křížek T, Vaculíková-Fantlová T, Stibůrková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, García-Cazorla Á, Haack TB, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G, Nagy P. Kožich V, et al. Among authors: kuster a. Redox Biol. 2022 Dec;58:102517. doi: 10.1016/j.redox.2022.102517. Epub 2022 Oct 18. Redox Biol. 2022. PMID: 36306676 Free PMC article.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnytė B, Calvo PL, Crushell E, Dalgiç B, Das AM, Dezsőfi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaçlioğlu CT, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloğlu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petković Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel GF, Wagner M, van der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H. Lenz D, et al. Among authors: kuster a. Hepatology. 2024 May 1;79(5):1075-1087. doi: 10.1097/HEP.0000000000000684. Epub 2023 Nov 16. Hepatology. 2024. PMID: 37976411 Free PMC article.
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.
Tardieu M, Cudejko C, Cano A, Hoebeke C, Bernoux D, Goetz V, Pichard S, Brassier A, Schiff M, Feillet F, Rollier P, Mention K, Dobbelaere D, Fouilhoux A, Espil-Taris C, Eyer D, Huet F, Walther-Louvier U, Barth M, Chevret L, Kuster A, Lefranc J, Neveu J, Pitelet G, Ropars J, Rivier F, Roubertie A, Touati G, Vanhulle C, Tardieu E, Caillaud C, Froissart R, Champeaux M, Labarthe F, Chabrol B. Tardieu M, et al. Among authors: kuster a. Eur J Neurol. 2023 Sep;30(9):2828-2837. doi: 10.1111/ene.15894. Epub 2023 Jun 10. Eur J Neurol. 2023. PMID: 37235686 Free article.
ATG5 selectively engages virus-tethered BST2/tetherin in an LC3C-associated pathway.
Judith D, Versapuech M, Bejjani F, Palaric M, Verlhac P, Kuster A, Lepont L, Gallois-Montbrun S, Janvier K, Berlioz-Torrent C. Judith D, et al. Among authors: kuster a. Proc Natl Acad Sci U S A. 2023 May 16;120(20):e2217451120. doi: 10.1073/pnas.2217451120. Epub 2023 May 8. Proc Natl Acad Sci U S A. 2023. PMID: 37155854 Free PMC article.
Facile Synthesis of Highly Stretchable, Tough, and Photodegradable Hydrogels.
Fonseca RG, Kuster A, Fernandes PP, Tavakoli M, Pereira P, Fernandes JR, De Bon F, Serra AC, Fonseca AC, Coelho JFJ. Fonseca RG, et al. Among authors: kuster a. Adv Healthc Mater. 2023 Sep;12(22):e2300918. doi: 10.1002/adhm.202300918. Epub 2023 May 15. Adv Healthc Mater. 2023. PMID: 37133868
Berlin statement on legacy and emerging contaminants in polar regions.
Ebinghaus R, Barbaro E, Bengtson Nash S, de Avila C, de Wit CA, Dulio V, Felden J, Franco A, Gandrass J, Grotti M, Herata H, Hughes KA, Jartun M, Joerss H, Kallenborn R, Koschorreck J, Küster A, Lohmann R, Wang Z, MacLeod M, Pugh R, Rauert C, Slobodnik J, Sühring R, Vorkamp K, Xie Z. Ebinghaus R, et al. Among authors: kuster a. Chemosphere. 2023 Jun;327:138530. doi: 10.1016/j.chemosphere.2023.138530. Epub 2023 Mar 29. Chemosphere. 2023. PMID: 37001758 Free article.
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.
Imbard A, Toumazi A, Magréault S, Garcia-Segarra N, Schlemmer D, Kaguelidou F, Perronneau I, Haignere J, de Baulny HO, Kuster A, Feillet F, Alberti C, Guilmin-Crépon S, Benoist JF, Schiff M. Imbard A, et al. Among authors: kuster a. Orphanet J Rare Dis. 2022 Nov 14;17(1):417. doi: 10.1186/s13023-022-02567-4. Orphanet J Rare Dis. 2022. PMID: 36376887 Free PMC article. Clinical Trial.
125 results