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Multiple symmetric lipomatosis as a marker of mitochondrial disease. Case report and review of the literature.
Neurol Sci. 2024 Jul 26. doi: 10.1007/s10072-024-07710-6. Online ahead of print.
Neurol Sci. 2024.
PMID: 39060540
No abstract available.
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ, Paradas C.
Domínguez-González C, et al. Among authors: encinar ab.
Orphanet J Rare Dis. 2019 May 6;14(1):100. doi: 10.1186/s13023-019-1071-z.
Orphanet J Rare Dis. 2019.
PMID: 31060578
Free PMC article.
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Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, Coll-Cantí J, Pareja-Galeano H, Díez-Bermejo J, Pérez M, Andreu AL, Pinós T, Arenas J, Martín MA, Lucia A.
Santalla A, et al. Among authors: encinar ab.
BMC Genomics. 2017 Nov 14;18(Suppl 8):819. doi: 10.1186/s12864-017-4188-2.
BMC Genomics. 2017.
PMID: 29143597
Free PMC article.
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