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756 results

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Page 1
Molecular analysis of mucopolysaccharidosis IVA (Morquio A) in Spain.
Pajares S, Alcalde C, Couce ML, Del Toro M, González-Meneses A, Guillén E, Pineda M, Pintos G, Gort L, Coll MJ. Pajares S, et al. Among authors: pineda m. Mol Genet Metab. 2012 Jun;106(2):196-201. doi: 10.1016/j.ymgme.2012.03.006. Epub 2012 Mar 24. Mol Genet Metab. 2012. PMID: 22521955
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador H, Lázaro C, Blanco I, Vilageliu L, Brems H, Grinberg D, Legius E, Serra E. Castellanos E, et al. Among authors: pineda m. Clin Genet. 2020 Feb;97(2):264-275. doi: 10.1111/cge.13649. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31573083
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.
Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F. Ferrer-Cortès X, et al. Among authors: pineda m. Mitochondrion. 2016 Jan;26:72-80. doi: 10.1016/j.mito.2015.12.004. Epub 2015 Dec 11. Mitochondrion. 2016. PMID: 26688339
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR, Derdak S, Del Mar O'Callaghan M, Garcia-Cazorla À, Pineda M, Armstrong J; Rett Working Group. Vidal S, et al. Among authors: pineda m. Sci Rep. 2017 Sep 25;7(1):12288. doi: 10.1038/s41598-017-11620-3. Sci Rep. 2017. PMID: 28947817 Free PMC article.
Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB.
Whitley CB, Vijay S, Yao B, Pineda M, Parker GJM, Rojas-Caro S, Zhang X, Dai Y, Cinar A, Bubb G, Patki KC, Escolar ML. Whitley CB, et al. Among authors: pineda m. Mol Genet Metab. 2019 Feb;126(2):131-138. doi: 10.1016/j.ymgme.2018.12.003. Epub 2018 Dec 6. Mol Genet Metab. 2019. PMID: 30635159 Clinical Trial.
756 results