Publications by authors named "Cristobal Colon"

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Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.
Eines Monteagudo-Vilavedra, Daniel Rodrigues, Giorgia Vella, Susana B Bravo, Carmen Pena, Cristobal Colon

Int J Mol Sci· March 2025

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Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Miloud Hammoud, María Domínguez-Ruiz, Imane Assiri, Daniel Rodrigues, Nisrine Aboussair

Genes (Basel)· November 2024

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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
María José de Castro, Simon A Jones, Javier de Las Heras, Paula Sánchez-Pintos, María L Couce

Orphanet J Rare Dis· June 2024

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A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.
María L Couce, María-Dolores Bóveda, Daisy E Castiñeiras, María-Eugenia Vázquez-Mosquera, Sofía Barbosa-Gouveia

Orphanet J Rare Dis· May 2024

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Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions.
J Victor Álvarez, Susana B Bravo, María Pilar Chantada-Vázquez, Carmen Pena, Cristóbal Colón

Int J Mol Sci· March 2024

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The LINCE Project: A Pathway for Diagnosing NCL2 Disease.
Daniel Rodrigues, Maria José de Castro, Pablo Crujeiras, Anna Duat-Rodriguez, Ana Victoria Marco

Front Pediatr· March 2022

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Plasma Proteomic Analysis in Morquio A Disease.
José V Álvarez, Susana B Bravo, María Pilar Chantada-Vázquez, Sofía Barbosa-Gouveia, Cristóbal Colón

Int J Mol Sci· June 2021

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Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA.
Víctor J Álvarez, Susana B Bravo, Maria Pilar Chantada-Vazquez, Cristóbal Colón, María J De Castro

Int J Mol Sci· December 2020

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Proteomic Analysis in Morquio A Cells Treated with Immobilized Enzymatic Replacement Therapy on Nanostructured Lipid Systems.
J Víctor Álvarez, Susana B Bravo, María García-Vence, María J De Castro, Asteria Luzardo

Int J Mol Sci· September 2019

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Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report.
Myriam Ley-Martos, Juan M Guerrero, Marta Lucas-Javato, Cristina Remón-García, J Raúl García-Lozano

Medicine (Baltimore)· October 2018

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Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.
Nora Céspedes, Angela Valencia, Carlos Alberto Echeverry, Maria Isabel Arce-Plata, Cristóbal Colón

Colomb Med (Cali)· September 2017

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Newborn screening for Fabry disease in the north-west of Spain.
Cristobal Colon, Saida Ortolano, Cristina Melcon-Crespo, Jose V Alvarez, Olalla E Lopez-Suarez

Eur J Pediatr· August 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.
Cristóbal Colón, J Victor Alvarez, Cristina Castaño, Luís G Gutierrez-Solana, Ana M Marquez

Medicine (Baltimore)· May 2017

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Congenital hypothyroidism with neurological and respiratory alterations: a case detected using a variable diagnostic threshold for TSH.
Jesús Barreiro, Jóse Ramón Alonso-Fernández, Lidia Castro-Feijoo, Cristóbal Colón, Paloma Cabanas

J Clin Res Pediatr Endocrinol· April 2012

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Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme.
Ma Luz Couce, Daisy E Castiñeiras, Ma Dolores Bóveda, Ana Baña, José A Cocho

Mol Genet Metab· December 2011

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Papilledema and visual loss as the presenting signs of a primary spinal primitive neuroectodermal tumor.
Cristobal Cruz Colon, Lilliam Díaz, Julio A Rodríguez-Padilla, Luis Serrano

J Neuroophthalmol· December 2009

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