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Safety and preliminary efficacy on cognitive performance and adaptive functionality of epigallocatechin gallate (EGCG) in children with Down syndrome. A randomized phase Ib clinical trial (PERSEUS study).
Cieuta-Walti C, Cuenca-Royo A, Langohr K, Rakic C, López-Vílchez MÁ, Lirio J, González-Lamuño Leguina D, González TB, García JG, Roure MR, Aldea-Perona A, Forcano L, Gomis-Gonzalez M, Cés SV, Lacaille F, Ravel A, Mircher C, Walti H, Janel N, Dairou J, Lévy M, Durand S, Dierssen M, Sacco S, Fornell RT; PERSEUS Study Group. Cieuta-Walti C, et al. Among authors: gonzalez lamuno leguina d. Genet Med. 2022 Oct;24(10):2004-2013. doi: 10.1016/j.gim.2022.06.011. Epub 2022 Aug 11. Genet Med. 2022. PMID: 35951014 Free article. Clinical Trial.
Cardiac arrest as a manifestation of unknown Type V glycogenosis: a case report.
Soria-Navarro R, Burgos Palacios V, Castrillo Bustamante C, Gallardo Agromayor E, Marcos González S, González-Lamuño Leguina D. Soria-Navarro R, et al. Among authors: gonzalez lamuno leguina d. ESC Heart Fail. 2022 Oct;9(5):3625-3629. doi: 10.1002/ehf2.14060. Epub 2022 Jul 12. ESC Heart Fail. 2022. PMID: 35821574 Free PMC article.
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium. Kožich V, et al. J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28. J Inherit Metab Dis. 2021. PMID: 33295057 Free PMC article.