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268 results

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Paediatric clinical study of 3D printed personalised medicines for rare metabolic disorders.
Rodríguez-Pombo L, de Castro-López MJ, Sánchez-Pintos P, Giraldez-Montero JM, Januskaite P, Duran-Piñeiro G, Dolores Bóveda M, Alvarez-Lorenzo C, Basit AW, Goyanes A, Couce ML. Rodríguez-Pombo L, et al. Among authors: couce ml. Int J Pharm. 2024 May 25;657:124140. doi: 10.1016/j.ijpharm.2024.124140. Epub 2024 Apr 19. Int J Pharm. 2024. PMID: 38643809 Free article.
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
de Castro MJ, Jones SA, de Las Heras J, Sánchez-Pintos P, Couce ML, Colón C, Crujeiras P, Unceta M, Church H, Brammeier K, Yee WH, Cooper J, López de Frutos L, Serrano-Gonzalo I, Camba MJ, White FJ, Holmes V, Ghosh A. de Castro MJ, et al. Among authors: couce ml. Orphanet J Rare Dis. 2024 Jun 25;19(1):244. doi: 10.1186/s13023-024-03219-5. Orphanet J Rare Dis. 2024. PMID: 38918870 Free PMC article.
Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency.
Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, de Juan JAC, Bóveda MD, Barbosa-Gouveia S, Vázquez-Mosquera ME, Barros-Angueira F, Patiño RF, Couce ML. Sánchez-Pintos P, et al. Among authors: couce ml. BMC Pediatr. 2024 Sep 30;24(1):620. doi: 10.1186/s12887-024-05074-6. BMC Pediatr. 2024. PMID: 39350089 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.
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.
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B. Soriano-Sexto A, et al. Among authors: couce ml. Int J Mol Sci. 2022 Oct 25;23(21):12850. doi: 10.3390/ijms232112850. Int J Mol Sci. 2022. PMID: 36361642 Free PMC article.
268 results