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2009 1
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2017 3
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2019 1
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2024 3

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Page 1
Plasma Proteomic Analysis in Morquio A Disease.
Álvarez JV, Bravo SB, Chantada-Vázquez MP, Barbosa-Gouveia S, Colón C, López-Suarez O, Tomatsu S, Otero-Espinar FJ, Couce ML. Álvarez JV, et al. Among authors: colon c. Int J Mol Sci. 2021 Jun 7;22(11):6165. doi: 10.3390/ijms22116165. Int J Mol Sci. 2021. PMID: 34200496 Free PMC article.
The LINCE Project: A Pathway for Diagnosing NCL2 Disease.
Rodrigues D, de Castro MJ, Crujeiras P, Duat-Rodriguez A, Marco AV, Del Toro M, Couce ML, Colón C. Rodrigues D, et al. Among authors: colon c. Front Pediatr. 2022 Mar 29;10:876688. doi: 10.3389/fped.2022.876688. eCollection 2022. Front Pediatr. 2022. PMID: 35425725 Free PMC article.
Newborn screening for Fabry disease in the north-west of Spain.
Colon C, Ortolano S, Melcon-Crespo C, Alvarez JV, Lopez-Suarez OE, Couce ML, Fernández-Lorenzo JR. Colon C, et al. Eur J Pediatr. 2017 Aug;176(8):1075-1081. doi: 10.1007/s00431-017-2950-8. Epub 2017 Jun 23. Eur J Pediatr. 2017. PMID: 28646478 Free PMC article. Clinical Trial.
Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease.
de Castro MJ, Jones SA, de Las Heras J, Sánchez-Pintos P, Couce ML, Colón C, Crujeiras P, Unceta M, Church H, Brammeier K, Yee WH, Cooper J, López de Frutos L, Serrano-Gonzalo I, Camba MJ, White FJ, Holmes V, Ghosh A. de Castro MJ, et al. Among authors: colon c. Orphanet J Rare Dis. 2024 Jun 25;19(1):244. doi: 10.1186/s13023-024-03219-5. Orphanet J Rare Dis. 2024. PMID: 38918870 Free PMC article.
Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.
Céspedes N, Valencia A, Echeverry CA, Arce-Plata MI, Colón C, Castiñeiras DE, Hurtado PM, Cocho JA, Herrera S, Arévalo-Herrera M. Céspedes N, et al. Among authors: colon c. Colomb Med (Cali). 2017 Sep 30;48(3):113-119. doi: 10.25100/cm.v48i3.2180. Colomb Med (Cali). 2017. PMID: 29213153 Free PMC article.
14 results