![Foto de Cristobal](/img/nophoto.png)
Cristobal
Colon Mejeras
Publicacións nas que colabora con Cristobal Colon Mejeras (12)
2024
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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
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Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions
International Journal of Molecular Sciences, Vol. 25, Núm. 6
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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
2022
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The LINCE Project: A Pathway for Diagnosing NCL2 Disease
Frontiers in Pediatrics, Vol. 10
2021
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Characterization of new proteomic biomarker candidates in mucopolysaccharidosis type IVA
International Journal of Molecular Sciences, Vol. 22, Núm. 1, pp. 1-22
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Plasma proteomic analysis in morquio a disease
International Journal of Molecular Sciences, Vol. 22, Núm. 11
2019
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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
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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
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Newborn screening for Fabry disease in the north-west of Spain
European Journal of Pediatrics, Vol. 176, Núm. 8, pp. 1075-1081
2015
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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
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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
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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