1.
Journal of Peking University(Health Sciences)
;
(6): 100-102, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-408782
ABSTRACT
Lysosomal storage disorders (LSDs) are genetic defects caused by lysosomal hydrolase deficiencies. These deficiencies lead to substrate accumulation affecting cells, tissues and organs. Detecting abnormal compound excretion and deficient enzymes assist diagnosis of these disorders for treatment and prevention. This mini review summarizes clinical presentations and diagnostic workup of LSDs and updates the new development in the area.