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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.
Glutaric aciduria type I: outcome of patients with early- versus late-diagnosis.
Couce ML, López-Suárez O, Bóveda MD, Castiñeiras DE, Cocho JA, García-Villoria J, Castro-Gago M, Fraga JM, Ribes A. Couce ML, et al. Among authors: cocho ja. Eur J Paediatr Neurol. 2013 Jul;17(4):383-9. doi: 10.1016/j.ejpn.2013.01.003. Epub 2013 Feb 5. Eur J Paediatr Neurol. 2013. PMID: 23395213
A glimpse into past, present, and future DNA sequencing.
Morey M, Fernández-Marmiesse A, Castiñeiras D, Fraga JM, Couce ML, Cocho JA. Morey M, et al. Among authors: cocho ja. Mol Genet Metab. 2013 Sep-Oct;110(1-2):3-24. doi: 10.1016/j.ymgme.2013.04.024. Epub 2013 May 11. Mol Genet Metab. 2013. PMID: 23742747 Review.
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Couce ML, Sánchez-Pintos P, Diogo L, Leão-Teles E, Martins E, Santos H, Bueno MA, Delgado-Pecellín C, Castiñeiras DE, Cocho JA, García-Villoria J, Ribes A, Fraga JM, Rocha H. Couce ML, et al. Among authors: cocho ja. Orphanet J Rare Dis. 2013 Jul 10;8:102. doi: 10.1186/1750-1172-8-102. Orphanet J Rare Dis. 2013. PMID: 23842438 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.
35 results