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List of works by Cristóbal Colón

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

scientific article

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA

scientific article published on 28 December 2020

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

scientific article

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

scientific article published on 11 October 2019

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

scientific article published on 22 September 2011

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

scientific article published on 01 October 2018

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

scientific article published in January 2010

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

scientific article published on 23 June 2017

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

scientific article published on 22 June 2010

Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.

scientific article published on 30 September 2017

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

scientific article published on 28 June 2010

Three novel mutations in the CFTR gene identified in Galician patients

scientific article published on 03 August 2008

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