Publicacións nas que colabora con Cristobal Colon Mejeras (12)

2024

  1. Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions

    International Journal of Molecular Sciences, Vol. 25, Núm. 6

2022

  1. The LINCE Project: A Pathway for Diagnosing NCL2 Disease

    Frontiers in Pediatrics, Vol. 10

2021

  1. Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA

    International Journal of Molecular Sciences, Vol. 22, Núm. 1, pp. 1-22

  2. Plasma proteomic analysis in morquio a disease

    International Journal of Molecular Sciences, Vol. 22, Núm. 11

2019

  1. Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems

    International journal of molecular sciences, Vol. 20, Núm. 18

2017

  1. A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project-A 2-year follow-up study

    Medicine (United States), Vol. 96, Núm. 19

  2. Newborn screening for Fabry disease in the north-west of Spain

    European Journal of Pediatrics, Vol. 176, Núm. 8, pp. 1075-1081

2015

  1. Proyecto FIND: resultados del primer año de trabajo en la detección precoz de las mucopolisacaridosis

    Acta pediátrica española, Vol. 73, Núm. 10, pp. 265-267

2011

  1. Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 3, Núm. 4, pp. 208-211

  2. Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme

    Molecular Genetics and Metabolism, Vol. 104, Núm. 4, pp. 470-475

2008

  1. Three novel mutations in the CFTR gene identified in Galician patients

    Journal of Cystic Fibrosis, Vol. 7, Núm. 6, pp. 520-522

1994

  1. Estudio epidemiologico de los niveles de la hormona estimuladora del tiroides (TSH) en la población neonatal gallega

    Estudio epidemiologico de los niveles de la hormona estimuladora del tiroides (TSH) en la población neonatal gallega