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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, Laurie S, Derdak S, Padilla N, de la Cruz X, Capdevila N, Spataro N, Baena N, Guitart M, Ruiz A. Aguilera C, et al. Among authors: delgadillo v. PLoS One. 2021 Oct 15;16(10):e0258766. doi: 10.1371/journal.pone.0258766. eCollection 2021. PLoS One. 2021. PMID: 34653234 Free PMC article.
Natural history of Sanfilippo syndrome in Spain.
Delgadillo V, O'Callaghan Mdel M, Gort L, Coll MJ, Pineda M. Delgadillo V, et al. Orphanet J Rare Dis. 2013 Dec 6;8:189. doi: 10.1186/1750-1172-8-189. Orphanet J Rare Dis. 2013. PMID: 24314109 Free PMC article.
LMNA mutation in progeroid syndrome in association with strokes.
Gonzalez-Quereda L, Delgadillo V, Juan-Mateu J, Verdura E, Rodriguez MJ, Baiget M, Pineda M, Gallano P. Gonzalez-Quereda L, et al. Among authors: delgadillo v. Eur J Med Genet. 2011 Nov-Dec;54(6):e576-9. doi: 10.1016/j.ejmg.2011.06.012. Epub 2011 Jul 18. Eur J Med Genet. 2011. PMID: 21791255
Plasma coenzyme Q10 status is impaired in selected genetic conditions.
Montero R, Yubero D, Salgado MC, González MJ, Campistol J, O'Callaghan MDM, Pineda M, Delgadillo V, Maynou J, Fernandez G, Montoya J, Ruiz-Pesini E, Meavilla S, Neergheen V, García-Cazorla A, Navas P, Hargreaves I, Artuch R. Montero R, et al. Among authors: delgadillo v. Sci Rep. 2019 Jan 28;9(1):793. doi: 10.1038/s41598-018-37542-2. Sci Rep. 2019. PMID: 30692599 Free PMC article.
Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.
Yubero D, Montero R, O'Callaghan M, Pineda M, Meavilla S, Delgadillo V, Sierra C, Altimira L, Navas P, Pope S, Oppenheim M, Neergheen V, Ghosh A, Mills P, Clayton P, Footitt E, Cleary M, Hargreaves I, Jones SA, Heales S, Artuch R. Yubero D, et al. Among authors: delgadillo v. JIMD Rep. 2016;25:1-7. doi: 10.1007/8904_2015_421. Epub 2015 Jul 24. JIMD Rep. 2016. PMID: 26205433 Free PMC article.
[Rhombencephalosynapsis, a rare congenital abnormality easy to diagnose].
Agut T, Muchart J, Delgadillo V, García-Alix A. Agut T, et al. Among authors: delgadillo v. An Pediatr (Barc). 2014 Dec;81(6):e3-4. doi: 10.1016/j.anpedi.2013.12.017. Epub 2014 Feb 20. An Pediatr (Barc). 2014. PMID: 24560496 Free article. Spanish. No abstract available.
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