Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects A Uribe, R Giugliani JIMD Reports-Volume 11, 107-116, 2013 | 43 | 2013 |
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease MY Niño, HE Mateus, DJ Fonseca, MA Kroos, SY Ospina, JF Mejía, ... JIMD Reports-Case and Research Reports, 2012/4, 39-48, 2013 | 20 | 2013 |
Deep Genotyping of the IDS Gene in Colombian Patients with Hunter Syndrome J Galvis, J González, A Uribe, H Velasco JIMD Reports, Volume 19, 101-109, 2015 | 16 | 2015 |
Enzymatic analysis of biomarkers for the monitoring of Gaucher patients in Colombia N Pacheco, A Uribe Gene 521 (1), 129-135, 2013 | 14 | 2013 |
Identification of mutations in Colombian patients affected with Fabry disease A Uribe, HE Mateus, JC Prieto, MF Palacios, SY Ospina, G Pasqualim, ... Gene 574 (2), 325-329, 2015 | 10 | 2015 |
Hiperglicinemia no cetósica (HGNC) forma típica y atípica. Presentación de casos diagnosticados en Colombia M Bermúdez, C Arteaga, Y Cifuentes, E Espinosa, A Uribe, L Barrera, ... Pediatría 36, 123-26, 2001 | 10 | 2001 |
β-Galactosidase deficiency in Colombia: report of 20 patients detected using dried blood spot samples A Uribe, A Ayala, M España, I Arevalo, N Pacheco, LMJ Garcia Journal of Inborn Errors of Metabolism and Screening 3, e140011, 2019 | 9 | 2019 |
Toxicity evaluation and initial characterization of the venom of a Colombian Latrodectus sp. A Rueda, E Realpe, A Uribe Toxicon 125, 53-58, 2017 | 9 | 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 |
Deficiencia de glucosa 6-fosfato deshidrogenasa en Colombia: memorias de 22 años de tamizaje de alto riesgo A Uribe Revista Med 25 (2), 7-21, 2017 | 8 | 2017 |
Los errores innatos del metabolismo en Colombia C Alvear, A Uribe, LA Barrera Acta Médica Colombiana 23 (1), 1998 | 6 | 1998 |
Galactosemia Clásica, deficiencia de Galactosa-1P-Uridintransferasa, Revisión. L Roa, F Rosas, S Uribe, A Uribe Revista Semilleros Med 11 (1), 77 - 86, 2017 | 5 | 2017 |
El rol de la creatinuria en los estudios de tamizaje para errores innatos del metabolismo: un estudio retrospectivo M España, J Benavides, A Uribe Memorias del XLV Congreso Nacional de Ciencias Biológicas, 5-8, 2010 | 4 | 2010 |
Errores innatos del metabolismo (EIM) Ocho años de investigacion em Colombia L Barrera, A Uribe 11th Latin American Congress of Genetics, Puerto Vallarta, Mexico 1 (1), 1994 | 4 | 1994 |
Tamizaje para enfermedades neurodegenerativas: resultados de cuatro años de investigación A Uribe, E Espinosa, O Echeverry, M Solano, M España, A Ayala Acta neurol. colomb 18 (1), 3-17, 2002 | 3 | 2002 |
Determination of reference values for alpha-N-Acetylglucosaminidase activities in patients with Sanfilippo type B disease and control population in Colombia JR Borda, A Uribe-Ardila Journal of Inborn Errors of Metabolism and Screening 9, e20200023, 2021 | 2 | 2021 |
High-risk population screening for Sly syndrome: Application of a micro-method in collected dried blood spots A Uribe, P Moreno, J Benavides Molecular Genetics and Metabolism 126 (2), S146, 2019 | 2 | 2019 |
Enzymatic Studies of Mucopolysaccharidosis Type IV in High-Risk Colombian Population: Reference Values A Uribe, A Ayala Journal of Inborn Errors of Metabolism & Screening 1, 16, 2013 | 2 | 2013 |
Breve Reseña de Errores innatos del metabolismo A Uribe Revista Semilleros Med 6 (1), 107-108, 2012 | 2 | 2012 |
Leukocytary Hexosaminidase Valoration: A Study in Control Population and Individuals with Neurodegenerative Illnesses N Argumedo, A Uribe Molecular Genetics and Metabolism 105 (2), S18, 2012 | 2 | 2012 |