Publicacións (20) Publicacións de Cristobal Colón Mejeras

2024

  1. A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

    Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1

  2. 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

2018

  1. Algoritmos de cribado neonatal coord.

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 319-352

  2. Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy Case report

    Medicine (United States), Vol. 97, Núm. 42

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

  3. Valores de referencia de aminoácidos, acilcarnitinas y succinilacetona por espectrometría de masas en tándem para su uso en el tamizaje neonatal en el suroccidente de Colombia

    Colombia Medica, Vol. 48, Núm. 3, pp. 112-118

2015

  1. Proyecto FIND: La importancia de un diagnóstico precoz

    Acta pediátrica española, Vol. 73, Núm. 3, pp. 56-59

  2. 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

  3. The TSH threshold in neonatal screening for congenital hypothyroidism: A variable solution

    Archives of Disease in Childhood, Vol. 96, Núm. 6, pp. 565-566

2010

  1. Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: Preliminary results of an improved DMB-based procedure

    Journal of Clinical Laboratory Analysis, Vol. 24, Núm. 3, pp. 149-153

  2. Newborn screening in Spain, with particular reference to Galicia: Echoes of Louis I. Woolf

    Molecular Genetics and Metabolism

2009

  1. The contributions of Louis i Woolf to the treatment, early diagnosis and understanding of phenylketonuria

    Journal of Medical Screening, Vol. 16, Núm. 4, pp. 205-211

2008

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

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