GM2 gangliosidoses: clinical features, pathophysiological aspects, and current therapies AF Leal, E Benincore-Flórez, D Solano-Galarza, RG Garzón Jaramillo, ... International journal of molecular sciences 21 (17), 6213, 2020 | 76 | 2020 |
Effect of elongation factor 1α promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase CJ Alméciga-Díaz, MA Rueda-Paramo, AJ Espejo, OY Echeverri, ... Molecular biology reports 36, 1863-1870, 2009 | 37 | 2009 |
Laboratory scale production of the human recombinant iduronate 2-sulfate sulfatase-Like from Pichia pastoris HA Córdoba-Ruiz, RA Poutou-Piñales, OY Echeverri-Peña, ... African Journal of Biotechnology 8 (9), 2009 | 30 | 2009 |
Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations RJ Pomponio, MA Cabrera-Salazar, OY Echeverri, G Miller, LA Barrera Molecular genetics and metabolism 86 (4), 466-472, 2005 | 30 | 2005 |
Expresión de iduronato 2-sulfato sulfatasa humana recombinante (IDShr) en Pichia pastoris J Herrera, N Algesira, L Caicedo, LA Barrera, RA Poutou, H Córdoba, ... Universitas Scientiarum 10 (1), 75-96, 2005 | 17 | 2005 |
Low-Scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12 ED Morales-Álvarez, CM Rivera-Hoyos, AM Baena-Moncada, ... journal of microbiology 51, 213-221, 2013 | 16 | 2013 |
Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center OY Echeverri, JM Guevara, ÁJ Espejo-Mojica, A Ardila, N Pulido, ... Orphanet journal of rare diseases 13, 1-12, 2018 | 13 | 2018 |
Understanding the metabolic consequences of human arylsulfatase a deficiency through a computational systems biology study E P Olga Y, S A Diego, RL Alexander, G Janneth, AD Carlos J, B A Luis Central Nervous System Agents in Medicinal Chemistry (Formerly Current …, 2017 | 12 | 2017 |
A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia MA Puentes-Tellez, PA Lerma-Barbosa, RG Garzón-Jaramillo, DA Suarez, ... Heliyon 6 (3), 2020 | 8 | 2020 |
Cuantificación de aminoácidos en plasma empleando Cromatografía Líquida de Alta Eficiencia LF Malaver Ortega, CJ Alméciga-Díaz, IS Morales Monsalve, ... Acta bioquímica clínica latinoamericana 43 (4), 647-660, 2009 | 8 | 2009 |
Enfermedad de orina en jarabe de arce: Mejoría Clínica asociada a detección precoz y manejo oportuno. reporte de caso y revisión de literatura JF Gómez-Castro, E Espinosa-García, LA Barrera, OY Echeverry Revista Med 16 (1), 99-105, 2008 | 8 | 2008 |
The landscape of CRISPR/Cas9 for inborn errors of metabolism AF Leal, N Fnu, E Benincore-Flórez, AM Herreño-Pachón, ... Molecular genetics and metabolism 138 (1), 106968, 2023 | 7 | 2023 |
1H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies N Pulido, JM Guevara-Morales, A Rodriguez-López, Á Pulido, J Díaz, ... Metabolites 11 (12), 891, 2021 | 7 | 2021 |
Producción de anticuerpos policlonales IgG contra la proteína iduronato-2-sulfato sulfatasa y desarrollo de un sistema de detección para IDS humana recombinante O Peña, Á Sosa, O Echeverri, H Sáenz, LA Barrera Biomédica 25 (2), 181-188, 2005 | 7 | 2005 |
Mucopolisacaridosis tipo IH (síndrome de Hurler). Primeros Casos en Colombia OY Echeverry, LA Barrera, MC Bermudez, HH Vega Colomb. Méd 26 (3), 1995 | 7 | 1995 |
Sphingolipids and their role in health and disease in the central nervous system AF Leal, DA Suarez, OY Echeverri-Peña, SL Albarracín, ... Advances in Biological Regulation 85, 100900, 2022 | 6 | 2022 |
Cyclic concatenated genetic encoder: A mathematical proposal for biological inferences ME Duarte-González, OY Echeverri, JM Guevara, R Palazzo Jr Biosystems 163, 47-58, 2018 | 6 | 2018 |
Fundamentos de las acidemias orgánicas y desórdenes del ciclo de la urea: diagnóstico y tratamiento LA Barrera, OY Echeverri, CJ Almaciga, LF Malaver Parte I. Temas Pediátricos 23 (4), 1-34, 2006 | 6 | 2006 |
Adrenoleucodistrofia ligada al X en ocho casos colombianos OYE Peña, EE García, H Moser, OMP Serrato, LAB Avellaneda Acta Neurológica Colombiana 21 (4), 299-305, 2005 | 6 | 2005 |
Aspectos clínicos y bioquímicos del síndrome de Lesch-Nyhan LA Barrera, F Rodríguez, A Gómez, O Echeverry, E Escudero Acta méd. colomb, 447-52, 1992 | 6 | 1992 |