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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: cocho ja. 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.
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA. Fernández-Marmiesse A, et al. Among authors: cocho ja. Orphanet J Rare Dis. 2014 Apr 25;9:59. doi: 10.1186/1750-1172-9-59. Orphanet J Rare Dis. 2014. PMID: 24767253 Free PMC article.
34 results