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Perinatal palliative care.
Martín-Ancel A, Pérez-Muñuzuri A, González-Pacheco N, Boix H, Espinosa Fernández MG, Sánchez-Redondo MD, Cernada M, Couce ML; en representación del Comité de Estándares, Sociedad Española de Neonatología. Martín-Ancel A, et al. Among authors: couce ml. An Pediatr (Engl Ed). 2022 Jan;96(1):60.e1-60.e7. doi: 10.1016/j.anpede.2021.10.003. Epub 2022 Jan 5. An Pediatr (Engl Ed). 2022. PMID: 34998731 Free article.
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.
New variants expand the neurological phenotype of COQ7 deficiency.
Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julia-Palacios NA, Jou C, Yubero D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch R, Santos-Ocaña C. Fabra MA, et al. Among authors: luz couce m. J Inherit Metab Dis. 2024 Sep;47(5):1047-1068. doi: 10.1002/jimd.12776. Epub 2024 Jul 8. J Inherit Metab Dis. 2024. PMID: 38973597
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.
Sanfilippo syndrome: Overall review.
Andrade F, Aldámiz-Echevarría L, Llarena M, Couce ML. Andrade F, et al. Among authors: couce ml. Pediatr Int. 2015 Jun;57(3):331-8. doi: 10.1111/ped.12636. Pediatr Int. 2015. PMID: 25851924 Review.
[Home births in Spain].
Sánchez Redondo MD, Cernadas M, Couce ML. Sánchez Redondo MD, et al. Among authors: couce ml. An Pediatr (Engl Ed). 2021 May;94(5):346. doi: 10.1016/j.anpedi.2020.11.014. Epub 2020 Dec 25. An Pediatr (Engl Ed). 2021. PMID: 33358529 Free article. Spanish. No abstract available.
Postauthorization safety study of betaine anhydrous.
Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Petković Ramadža D, Baumgartner MR, Cano A, García Jiménez MC, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla Olivas S, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V, Kölker S. Mütze U, et al. Among authors: couce ml. J Inherit Metab Dis. 2022 Jul;45(4):719-733. doi: 10.1002/jimd.12499. Epub 2022 Apr 6. J Inherit Metab Dis. 2022. PMID: 35358327 Free article.
85 results