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2013 1
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2026 5

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39 results

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Page 1
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.
Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria.
López-Rey N, Cabaleiro A, Pata MP, Peyrou M, Estévez-Salguero Á, Fernández-Sanmartín P, Morgan DA, Ferreira V, Sánchez-Pintos P, Folgueira C, Diéguez C, Urisarri A, González-García I, Seoane LM, Rahmouni K, Villarroya F, Couce ML, Nogueiras R, López M. López-Rey N, et al. Among authors: sanchez pintos p. MedComm (2020). 2026 Jun 13;7(6):e70820. doi: 10.1002/mco2.70820. eCollection 2026 Jun. MedComm (2020). 2026. PMID: 42292855 Free PMC article.
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.
Lee A, Bliksrud YT, Onali M, Neugebauer J, Eyskens F, Haas D, Mossler K, Enekwe A, Kiec-Wilk B, Diep LM, Bellettato CM, Zernikow B, Scarpa M, Rahman S, Tangeraas T; MetabERN collaboration group on palliative care. Lee A, et al. J Inherit Metab Dis. 2025 Nov;48(6):e70095. doi: 10.1002/jimd.70095. J Inherit Metab Dis. 2025. PMID: 41137497 Free PMC article.
Prognostic Factors of Late-onset Hearing Loss in Infants With Congenital Cytomegalovirus and Normal Audiologic Assessment at Birth.
Buonsenso D, Pedrero-Tomé R, Raimondi F, Salomé S, Papaevangelou V, Syridou G, Ríos-Barnés M, Fortuny C, Villaverde S, de Vergas J, Baquero-Artigao F, Rodríguez-Molino P, Frick MA, Álvarez-Vallejo B, Saavedra-Lozano J, Fougere Y, Del Valle R, Ara-Montojo F, Foulon I, Mignogna S, Muga Zuriarrain O, Lyall H, Vives-Oñós I, Colino E, Tsiatsiou O, Moliner E, Garofoli F, Cuadrado I, Blázquez-Gamero D; European Registry of Children with Congenital CMV. Buonsenso D, et al. Pediatr Infect Dis J. 2026 Jan 1;45(1):1-10. doi: 10.1097/INF.0000000000004960. Epub 2025 Sep 9. Pediatr Infect Dis J. 2026. PMID: 40838764 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: sanchez pintos p. 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.
Dietary Patterns in a Nationwide Cohort of Patients with Hereditary Fructose Intolerance.
Izquierdo-García E, Mora E, García-Arenas D, Martínez Chicano D, López-García MS, Alcalde C, Belanger-Quintana A, Cañedo-Villarroya E, Ceberio L, Diego E, Bellusci M, Chumillas-Calzada S, Correcher P, Couce ML, Cano A, Gómez I, Hernández T, Morales M, Pedrón-Giner C, Petrina Jáuregui E, Peña-Quintana L, Sánchez-Pintos P, Serrano-Nieto J, Unceta Suarez M, Arza A, Vitoria Miñana I, Delgado TC, de Las Heras J. Izquierdo-García E, et al. Among authors: sanchez pintos p. Nutrients. 2026 Feb 27;18(5):771. doi: 10.3390/nu18050771. Nutrients. 2026. PMID: 41829941 Free PMC article.
Carbohydrate status in patients with phenylketonuria.
Couce ML, Sánchez-Pintos P, Vitoria I, De Castro MJ, Aldámiz-Echevarría L, Correcher P, Fernández-Marmiesse A, Roca I, Hermida A, Martínez-Olmos M, Leis R. Couce ML, et al. Among authors: sanchez pintos p. Orphanet J Rare Dis. 2018 Jun 27;13(1):103. doi: 10.1186/s13023-018-0847-x. Orphanet J Rare Dis. 2018. PMID: 29945661 Free PMC 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: sanchez pintos p. Nutrients. 2025 Mar 28;17(7):1173. doi: 10.3390/nu17071173. Nutrients. 2025. PMID: 40218931 Free PMC article.
Treatment adherence in tyrosinemia type 1 patients.
González-Lamuño D, Sánchez-Pintos P, Andrade F, Couce ML, Aldámiz-Echevarría L. González-Lamuño D, et al. Among authors: sanchez pintos p. Orphanet J Rare Dis. 2021 Jun 3;16(1):256. doi: 10.1186/s13023-021-01879-1. Orphanet J Rare Dis. 2021. PMID: 34082789 Free PMC article.
39 results