A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia

Lysosomal storage diseases (LSDs) are a group of about 50 inborn errors of metabolism characterized by the lysosomal accumulation of partially or non-degraded molecules due to mutations in proteins involved in the degradation of macromolecules, transport, lysosomal biogenesis or modulators of lysoso...

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Detalles Bibliográficos
Autores principales: Puentes-Tellez, María Alejandra, Lerma-Barbosa, Paula Andrea, Garzón-Jaramillo, Rafael Guillermo, Suarez, Diego A., Espejo-Mojica, Angela J., Guevara, Johana M., Echeverri, Olga Yaneth, Solano-Galarza, Daniela, Uribe-Ardila, Alfredo, Alméciga-Díaz, Carlos J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113438/
https://www.ncbi.nlm.nih.gov/pubmed/32258481
http://dx.doi.org/10.1016/j.heliyon.2020.e03635

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113438/
https://www.ncbi.nlm.nih.gov/pubmed/32258481
http://dx.doi.org/10.1016/j.heliyon.2020.e03635

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