C. Colón

发表

The LINCE Project: A Pathway for Diagnosing NCL2 Disease

A. Duat‐Rodríguez, M. D. de Castro, M. Couce, 2022, Frontiers in Pediatrics.

Plasma Proteomic Analysis in Morquio A Disease

F. Otero-Espinar, O. López-Suárez, M. Couce, 2021, International journal of molecular sciences.

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

F. Otero-Espinar, M. D. de Castro, M. Couce, 2019, International journal of molecular sciences.

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

C. Colón, J. Alonso-Fernández, 2010, Molecular genetics and metabolism.

Article Commentary: The contributions of Louis I Woolf to the treatment, early diagnosis and understanding of phenylketonuria

C. Colón, J. Alonso-Fernández, 2009, Journal of medical screening.

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

J. Cocho, M. Couce, J. Fraga, 2011, Molecular genetics and metabolism.

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

C. Colón, J. Alonso-Fernández, J. Fidalgo, 2010, Journal of clinical laboratory analysis.

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

J. Guerrero, J. García-Lozano, H. Macher, 2018, Medicine.

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

O. López-Suárez, M. Couce, S. Ortolano, 2017, European Journal of Pediatrics.

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

M. Couce, J. I. Alvarez, F. Sánchez-Valverde, 2017, Medicine.

Congenital Hypothyroidism with Neurological and Respiratory Alterations: A Case Detected Using a Variable Diagnostic Threshold for TSH

Luis Antonio Castaño, M. Couce, J. Barreiro, 2011, Journal of clinical research in pediatric endocrinology.

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

J. Cocho, S. Herrera, M. Arévalo-Herrera, 2017, Colombia medica.

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA

F. Otero-Espinar, M. D. de Castro, M. Couce, 2020, International journal of molecular sciences.