Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme

Conclusion
Very early ERT using our rapid diagnostic and treatment strategy enabled our patients with IOPD to have better outcomes than patients in other medical centres.

Source: Journal of Medical Genetics - April 20, 2023 Category: Genetics & Stem Cells Authors: Yang, C.-F., Liao, T.-W. E., Chu, Y.-L., Chen, L.-Z., Huang, L.-Y., Yang, T.-F., Ho, H.-C., Kao, S.-M., Niu, D.-M. Tags: Biochemical genetics Source Type: research