A perspective on research, diagnosis, and management of lysosomal disorders in Colombia: An update

MA Puentes-Tellez, PA Lerma-Barbosa, RG Garzón-Jaramillo, D Suarez, AJ Espejo-Mojica, JM Guevara, OY Echeverri, D Solano-Galarzaa, A Uribe-Ardila, CJ Alméciga-Díaz

Producción: Contribución a una revistaResumen de la jornadarevisión exhaustiva

Resumen

For more than 30 years, the study of lysosomal diseases in Colombia has resulted in a vast number of literature that accounts for the experience gained in the field. Throughout the years, Colombian researchers and physicians have focused their efforts into understanding and characterizing lysosomal diseases such as mucopolysaccharidoses, Pompe disease, Gaucher disease, Fabry disease, and Tay-Sachs and Sandhoff diseases. This has been done through the publication of basic research, description of clinical cases and mutation reports. We previously summarized the Colombian experience on lysosomal diseases and explored the potential that the research of lysosomal diseases has in the country. As an evidence of the growing interest on lysosomal diseases in the country, we aim to update the recent advances on the research made on the last year. We summarize the efforts made on the last 30 years to date on the topic and we present the scope to identify research opportunities.
Idioma originalInglés
Páginas (desde-hasta)S88-S88
Número de páginas1
PublicaciónMolecular Genetics and Metabolism
Volumen132
N.º2
DOI
EstadoPublicada - feb. 2021

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