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Page 1
A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B.
Muschol N, Koehn A, von Cossel K, Okur I, Ezgu F, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. Muschol N, et al. Among authors: couce ml. J Clin Invest. 2023 Jan 17;133(2):e165076. doi: 10.1172/JCI165076. J Clin Invest. 2023. PMID: 36413418 Free PMC article. Clinical Trial.
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
Weinstein DA, Derks TG, Rodriguez-Buritica DF, Ahmad A, Couce ML, Mitchell JJ, Riba-Wolman R, Mount M, Sallago JB, Ross KM, van der Klauw MM, de Boer F, van der Schaaf C, Saavedra H, Martínez-Olmos M, Atanga E, Hosseini A, Mitragotri D, Crombez E. Weinstein DA, et al. Among authors: couce ml. J Inherit Metab Dis. 2025 Mar;48(2):e70014. doi: 10.1002/jimd.70014. J Inherit Metab Dis. 2025. PMID: 40064185 Free PMC article. Clinical Trial.
A comparative proteomic, transcriptomic and glycomic analysis of extracellular vesicle isolation techniques highlights ExoGAG efficiency for a more complete identification of breast milk molecular signaling pathways.
Pereira-Hernández M, Picáns-Leis R, Vázquez-Mosquera ME, Lago-Baameiro N, Fortes-González P, López-Valverde L, de la Iglesia AB, Núñez-González L, Bravo SB, Pardo M, Couce ML, Garcia-Gonzalez MA. Pereira-Hernández M, et al. Among authors: couce ml. Cell Commun Signal. 2025 Oct 2;23(1):412. doi: 10.1186/s12964-025-02390-x. Cell Commun Signal. 2025. PMID: 41039499 Free PMC article.
Transforming NICU care: rapid WES and transcriptomics-validation, social impact, and cost analysis.
Martín López-Pardo B, Barbosa-Gouveia S, Vázquez-Mosquera ME, Reyes F, Falcão Reis C, Laranjeira F, Sánchez-Tamayo T, Sánchez-Pintos P, Fernández-Feijoo CD, Pérez-Muñuzuri A, Couce ML. Martín López-Pardo B, et al. Among authors: couce ml. Eur J Pediatr. 2025 Jun 27;184(7):453. doi: 10.1007/s00431-025-06225-2. Eur J Pediatr. 2025. PMID: 40576830 Free PMC article.
Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing.
López-Valverde L, Vázquez-Mosquera ME, Colón-Mejeras C, Álvarez JV, López-Pardo BM, López LL, Sánchez-Martínez R, López-Mendoza M, López-Rodríguez M, Villacorta-Argüelles E, Goicoechea-Diezhandino MA, Guerrero-Márquez FJ, Ortolano S, Leao-Teles E, Hermida-Ameijeiras Á, Couce ML. López-Valverde L, et al. Among authors: couce ml. Neurobiol Dis. 2025 Jun 1;209:106908. doi: 10.1016/j.nbd.2025.106908. Epub 2025 Apr 13. Neurobiol Dis. 2025. PMID: 40233852 Free article.
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.
Martín-Hernández E, Bellusci M, Pérez-Mohand P, Correcher Medina P, Blasco-Alonso J, Morais-López A, de Las Heras J, Meavilla Olivas SM, Dougherty-de Miguel L, Couce ML, Villarroya EC, García Jiménez MC, Moreno-Lozano PJ, Vives I, Gil-Campos M, Stanescu S, Ceberio-Hualde L, Camprodón M, Cortès-Saladelafont E, López-Urdiales R, Murray Hurtado M, Márquez Armenteros AM, Sierra Córcoles C, Peña-Quintana L, Ruiz-Pons M, Alcalde C, Castellanos-Pinedo F, Dios E, Barrio-Carreras D, Martín-Cazaña M, García-Peris M, Andrade JD, García-Volpe C, de Los Santos M, García-Cazorla A, Del Toro M, Felipe-Rucián A, Comino Monroy MJ, Sánchez-Pintos P, Matas A, Gil Ortega D, Martín-Rivada Á, Bergua A, Belanger-Quintana A, Vitoria I, Yahyaoui R, Pérez B, Morales-Conejo M, Quijada-Fraile P. Martín-Hernández E, et al. Among authors: couce ml. Nutrients. 2025 Mar 28;17(7):1173. doi: 10.3390/nu17071173. Nutrients. 2025. PMID: 40218931 Free PMC article.
Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.
Monteagudo-Vilavedra E, Rodrigues D, Vella G, Bravo SB, Pena C, Lopez-Valverde L, Colon C, Sanchez-Pintos P, Otero Espinar FJ, Couce ML, Alvarez JV. Monteagudo-Vilavedra E, et al. Among authors: couce ml. Int J Mol Sci. 2025 Mar 7;26(6):2408. doi: 10.3390/ijms26062408. Int J Mol Sci. 2025. PMID: 40141052 Free PMC article.
269 results