TY - JOUR
T1 - A perspective on research, diagnosis, and management of lysosomal disorders in Colombia
T2 - An update
AU - Puentes-Tellez, MA
AU - Lerma-Barbosa, PA
AU - Garzón-Jaramillo, RG
AU - Suarez, D
AU - Espejo-Mojica, AJ
AU - Guevara, JM
AU - Echeverri, OY
AU - Solano-Galarzaa, D
AU - Uribe-Ardila, A
AU - Alméciga-Díaz, CJ
PY - 2021/2
Y1 - 2021/2
N2 - 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.
AB - 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.
UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_puj3&SrcAuth=WosAPI&KeyUT=WOS:000614651500207&DestLinkType=FullRecord&DestApp=WOS_CPL
U2 - 10.1016/j.ymgme.2020.12.211
DO - 10.1016/j.ymgme.2020.12.211
M3 - Meeting Abstract
SN - 1096-7192
VL - 132
SP - S88-S88
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 2
ER -