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Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.
Mol Genet Metab Rep. 2023 Jun;35:100962. doi: 10.1016/j.ymgmr.2023.100962. Epub 2023 Mar 6.
Mol Genet Metab Rep. 2023.
PMID: 36909454
Free PMC article.
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype.
Ballester-Lopez A, Koehorst E, Almendrote M, Martínez-Piñeiro A, Lucente G, Linares-Pardo I, Núñez-Manchón J, Guanyabens N, Cano A, Lucia A, Overend G, Cumming SA, Monckton DG, Casadevall T, Isern I, Sánchez-Ojanguren J, Planas A, Rodríguez-Palmero A, Monlleó-Neila L, Pintos-Morell G, Ramos-Fransi A, Coll-Cantí J, Nogales-Gadea G.
Ballester-Lopez A, et al. Among authors: monlleo neila l.
Hum Mutat. 2020 Feb;41(2):420-431. doi: 10.1002/humu.23932. Epub 2019 Nov 4.
Hum Mutat. 2020.
PMID: 31608518
Free article.
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Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum.
Monlleo-Neila L, Toro MD, Bornstein B, Garcia-Arumi E, Sarrias A, Roig-Quilis M, Munell F.
Monlleo-Neila L, et al.
J Child Neurol. 2013 Nov;28(11):1531-1534. doi: 10.1177/0883073812460580. Epub 2012 Oct 3.
J Child Neurol. 2013.
PMID: 23034978
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