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

MA Puentes-Tellez, PA Lerma-Barbosa… - Heliyon, 2020 - cell.com
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 …

[HTML][HTML] Hgs Deficiency Caused Restrictive Cardiomyopathy via Disrupting Proteostasis

Z Li, T Wang, C Xin, Y Song, J Kong, J Xu… - … Journal of Biological …, 2022 - ncbi.nlm.nih.gov
The molecular mechanisms underlying restrictive cardiomyopathy (RCM) are not fully
understood. Hepatocyte growth factor-regulated tyrosine kinase substrate (HGS) is a vital …