Cristobal
Colon Mejeras
Publicacións nas que colabora con Cristobal Colon Mejeras (12)
2024
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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
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
2008
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Three novel mutations in the CFTR gene identified in Galician patients
Journal of Cystic Fibrosis, Vol. 7, Núm. 6, pp. 520-522
1994
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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