Recent advances in the diagnosis and treatment of lysosomal storage diseases
- VernacularTitle:溶酶体贮积症的诊断与治疗进展
- Author:
Xiru WU
;
Xinhua BAO
- Publication Type:Journal Article
- Keywords:
Lysosomal storage diseases;
Diagnosis;
Therapy
- From:
Journal of Peking University(Health Sciences)
2003;0(04):-
- CountryChina
- Language:Chinese
-
Abstract:
SUMMARY Lysosomal storage diseases are a group of genetic disorders that result from the defect in lysosomal function. Signs and symptoms are variable, it is difficult to diagnose this group of disease merely by the clinical manifestation. The diagnosis usually is made by measuring the activity of the corresponding enzyme. Gene mutational analysis is useful for the diagnosis of some of the lysosome storage diseases. The treatment has focused on the replacement of the defective enzyme responsible for the disease and the hematopoietic stem cell transplantation. Both of them have achieved exciting outcomes in some of the diseases.
