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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).
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.
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[The metabolic newborn screening as a healthcare model of the precision medicine. Perspective from the Spanish Association for the Study of Congenital Errors of Metabolism (AECOM).].
González-Lamuño Leguina D, Bóveda Fontán MD, Bueno Delgado M, Gort Mas L, Unceta Suárez M, Morales Conejo M.
González-Lamuño Leguina D, et al.
Rev Esp Salud Publica. 2021 Jan 26;95:e202101021.
Rev Esp Salud Publica. 2021.
PMID: 33496277
Free article.
Spanish.
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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.
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