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Page 1
Proteomics in Inherited Metabolic Disorders.
Chantada-Vázquez MDP, Bravo SB, Barbosa-Gouveia S, Alvarez JV, Couce ML. Chantada-Vázquez MDP, et al. Among authors: couce ml. Int J Mol Sci. 2022 Nov 25;23(23):14744. doi: 10.3390/ijms232314744. Int J Mol Sci. 2022. PMID: 36499071 Free PMC article. Review.
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.
Characterization of the functional component in human milk and identification of the molecular mechanisms undergoing prematurity.
Picáns-Leis R, Vázquez-Mosquera ME, Pereira-Hernández M, Vizoso-González M, López-Valverde L, Barbosa-Gouveia S, López-Suárez O, López-Sanguos C, Bravo SB, García-González MA, Couce ML. Picáns-Leis R, et al. Among authors: couce ml. Clin Nutr. 2025 Jan;44:178-192. doi: 10.1016/j.clnu.2024.12.013. Epub 2024 Dec 14. Clin Nutr. 2025. PMID: 39700709
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.
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.
Editorial: NGS technologies of rare diseases diagnosis.
Couce ML, González-Vioque E. Couce ML, et al. Front Pediatr. 2022 Nov 12;10:1032359. doi: 10.3389/fped.2022.1032359. eCollection 2022. Front Pediatr. 2022. PMID: 36444169 Free PMC article. No abstract available.
Optimising 3D printed medications for rare diseases: In-line mass uniformity testing in direct powder extrusion 3D printing.
Mora-Castaño G, Rodríguez-Pombo L, Carou-Senra P, Januskaite P, Rial C, Bendicho-Lavilla C, Couce ML, Millán-Jiménez M, Caraballo I, Basit AW, Alvarez-Lorenzo C, Goyanes A. Mora-Castaño G, et al. Among authors: couce ml. Int J Pharm. 2025 Jan 5;668:124964. doi: 10.1016/j.ijpharm.2024.124964. Epub 2024 Nov 16. Int J Pharm. 2025. PMID: 39557179 Free article.
259 results