Navegar por autor "Colón Mejeras, Cristobal"

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Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA

2020- Álvarez, V. J.; Bravo López, Susana Belén; Chantada Vázquez, María Pilar; Colón Mejeras, Cristobal; De Castro López, María José; [et al.]
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers

2024- López Valverde, Laura; Vázquez Mosquera, María Eugenia; Colón Mejeras, Cristobal; Bravo López, Susana Belén; Barbosa Gouveia, Sofía; [et al.]
Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

2011- Couce Pico, María Luz; Gómez Lado, María del Carmen; Pombo Arias, Manuel; Cabanas Rodríguez, Paloma; Castro Feijoo, Lidia; [et al.]
Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing

2025- López Valverde, Laura; Vázquez Mosquera, María Eugenia; Colón Mejeras, Cristobal; Álvarez González, José Victor; Martín López-Pardo, Beatriz María; [et al.]
Enzyme-Loaded Gel Core Nanostructured Lipid Carriers to Improve Treatment of Lysosomal Storage Diseases: Formulation and In Vitro Cellular Studies of Elosulfase Alfa-Loaded Systems

2019- Álvarez González, José Victor; Herrero Filgueira, Carolina; González, A. F.; Colón Mejeras, Cristobal; Beiras Iglesias, A.; [et al.]
Estratexia galega en enfermidades raras 2025-2030

2025- Alonso Bidegain, Miguel; Balado Insunza, Mª de las Nieves; Balvís Grande, Celsa Beatriz; Botana Torres, Isabel; Cocho de Juan, José Ángel; [et al.]
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

2011- Couce Pico, María Luz; Baña Souto, Ana Maria; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Cocho de Juan, José Ángel; [et al.]
Proteomic analysis in morquio a cells treated with immobilized enzymatic replacement therapy on nanostructured lipid systems

2019- Álvarez González, José Victor; Bravo López, Susana Belén; García-Vence, M.; De Castro López, María José; Luzardo, A.; [et al.]
Proyecto FIND. Resultados del primer ano de trabajo en la deteccion precoz de las mucopolisacaridosis

2015- Couce Pico, María Luz; Colón Mejeras, Cristobal; Álvarez González, José Victor
Proyecto FIND: La importancia de un diagnostico precoz

2015- Colón Mejeras, Cristobal
The LINCE Project: A Pathway for Diagnosing NCL2 Disease

2022- Rodrigues, D.; De Castro López, María José; Crujeiras Barral, Pablo; Duat-Rodriguez, A.; Marco, A.V.; [et al.]
The TSH threshold in neonatal screening for congenital hypothyroidism: a variable solution.

2011- Colón Mejeras, Cristobal; Alonso Fernández, José R