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Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.
de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla S, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R, Quintero J. de Las Heras J, et al. Among authors: sanchez pintos p. Nutrients. 2024 Dec 13;16(24):4309. doi: 10.3390/nu16244309. Nutrients. 2024. PMID: 39770929 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: sanchez pintos p. 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.
[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.].
Sánchez Pintos P, Cocho de Juan JÁ, Bóveda Fontán MD, Castiñeiras Ramos DE, Colón Mejeras C, Iglesias Rodríguez AJ, de Castro López MJ, Alonso Fernández JR, Fraga Bermúdez JM, Couce Pico ML. Sánchez Pintos P, et al. Rev Esp Salud Publica. 2020 Dec 16;94:e202012161. Rev Esp Salud Publica. 2020. PMID: 33323918 Free PMC article. Spanish.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla S, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de Los Santos M, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M, Bellusci M. Martín-Hernández E, et al. J Clin Med. 2022 Aug 28;11(17):5045. doi: 10.3390/jcm11175045. J Clin Med. 2022. PMID: 36078975 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: sanchez pintos p. 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.
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