Cargando…
Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center
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, as well as the research at basic, translational and clinica...
Autores principales: | Echeverri, Olga Y., Guevara, Johana M., Espejo-Mojica, Ángela J., Ardila, Andrea, Pulido, Ninna, Reyes, Magda, Rodriguez-Lopez, Alexander, Alméciga-Díaz, Carlos J., Barrera, Luis A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097205/ https://www.ncbi.nlm.nih.gov/pubmed/30115094 http://dx.doi.org/10.1186/s13023-018-0879-2 |
Ejemplares similares
-
A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia
por: Puentes-Tellez, María Alejandra, et al.
Publicado: (2020) -
(1)H-Nuclear Magnetic Resonance Analysis of Urine as Diagnostic Tool for Organic Acidemias and Aminoacidopathies
por: Pulido, Ninna, et al.
Publicado: (2021) -
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies
por: Leal, Andrés Felipe, et al.
Publicado: (2020) -
Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations
por: Carneiro-Sampaio, Magda, et al.
Publicado: (2022) -
Metabolic impact of infant formulas in young infants. An outlook from the urine metabolome
por: Calvo Barbosa, Angie Marcela, et al.
Publicado: (2022)