Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Olga Y. Echeverri"'
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 10 (2022)
Abstract Classical galactosemia is caused by the genetic deficiency of galactose-1-phosphate-urydyl-transferase resulting in clinical symptoms development during the first weeks of life including jaundice, hypotonia, lethargy, emesis, hepatomegaly, a
Externí odkaz:
https://doaj.org/article/7ee69fc5c98f4c349dd074413f4e4a2b
Autor:
Olga Y. Echeverri-Peña, Diego A. Salazar-Barreto, Alexander Rodríguez-Lopez, Janneth González, Carlos J. Alméciga-Díaz, Cristian H. Verano-Guevara, Luis A. Barrera
Publikováno v:
Heliyon, Vol 7, Iss 7, Pp e07671- (2021)
Metachromatic leukodystrophy (MLD) is a human neurodegenerative disorder characterized by progressive damage on the myelin band in the nervous system. MLD is caused by the impaired function of the lysosomal enzyme Arylsulphatase A (ARSA). The physiop
Externí odkaz:
https://doaj.org/article/ffe2a6364f784b52be6730cc749b2c56
Autor:
Olga Y. Echeverri, Johana M. Guevara, Ángela J. Espejo-Mojica, Andrea Ardila, Ninna Pulido, Magda Reyes, Alexander Rodriguez-Lopez, Carlos J. Alméciga-Díaz, Luis A. Barrera
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
Abstract The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the training of different professionals,
Externí odkaz:
https://doaj.org/article/49daf7acd2fa45508c4d511cfb9b74ad
Autor:
Ninna Pulido, Johana M. Guevara-Morales, Alexander Rodriguez-López, Álvaro Pulido, Jhon Díaz, Ru Angelie Edrada-Ebel, Olga Y. Echeverri-Peña
Publikováno v:
Metabolites, Vol 11, Iss 12, p 891 (2021)
The utility of low-resolution 1H-NMR analysis for the identification of biomarkers provided evidence for rapid biochemical diagnoses of organic acidemia and aminoacidopathy. 1H-NMR, with a sensitivity expected for a field strength of 400 MHz at 64 sc
Externí odkaz:
https://doaj.org/article/fa03da596de54c2b90445fbe7b852456
Autor:
P. Olga Y., Echeverri, A. Diego, Salazar, Alexander, Rodriguez-Lopez, Janneth, Gonzalez, Carlos J., Almeciga-Díaz, A. Luis, Barrera
Publikováno v:
Central Nervous System Agents in Medicinal Chemistry(Ingenta); April 2017, Vol. 17 Issue: 1 p72-77, 6p