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Alfredo Uribe Ardila
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Year
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
422013
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
202013
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
162015
Enzymatic analysis of biomarkers for the monitoring of Gaucher patients in Colombia
N Pacheco, A Uribe
Gene 521 (1), 129-135, 2013
142013
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
102015
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
102001
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
92019
Toxicity evaluation and initial characterization of the venom of a Colombian Latrodectus sp.
A Rueda, E Realpe, A Uribe
Toxicon 125, 53-58, 2017
92017
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
82020
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
82017
Los errores innatos del metabolismo en Colombia
C Alvear, A Uribe, LA Barrera
Acta Médica Colombiana 23 (1), 1998
61998
Galactosemia Clásica, deficiencia de Galactosa-1P-Uridintransferasa, Revisión.
L Roa, F Rosas, S Uribe, A Uribe
Revista Semilleros Med 11 (1), 77 - 86, 2017
52017
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
42010
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
41994
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
32002
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
22021
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
22019
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
22013
Breve Reseña de Errores innatos del metabolismo
A Uribe
Revista Semilleros Med 6 (1), 107-108, 2012
22012
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
22012
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Articles 1–20