Biomarkers – CentoGuard
Biomarkers play ideally an essential role in the early diagnosis, prediction and therapeutic monitoring of diseases, reflecting the burden of the disease for the patients. Regular monitoring both for disease onset and progression but also demonstrating the benefit of potential treatment are of high value for the patients. Biomarkers bring rationality in the treatment of patients with rare diseases.
Articles on Biomarkers
We estimate, that every 300th newborn in some countries may be eligible for inclusion due to high-grade suspicion of NPC. The validation of this new biochemical marker from the plasma and saliva of the affected patients is the goal of this study.
The validation of this new biochemical marker from the plasma and saliva of the affected patients is the goal of this study.
Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels…