A genetic modifier of symptom onset in Pompe disease - Concepedia

Concepedia

Publication | Open Access

A genetic modifier of symptom onset in Pompe disease

DOI Full Paper Access

45

Citations

32

References

2019

Year

Atze J. Bergsma, Stijn L.M. in ‘t Groen, Jan J. A. van den Dorpel, Hannerieke J.M.P. van den Hout, Nadine A. M. E. van der Beek, Benedikt Schoser, António Toscano, Olimpia Musumeci, Bruno Bembi, Andrea Dardis,

Abstract

c.510C>T is a genetic modifier in compound heterozygous and homozygous IVS1 patients. This finding is important for neonatal screening programs for Pompe disease. FUND: This work was funded by grants from Sophia Children's Hospital Foundation (SSWO, grant S17-32) and Metakids (2016-063).

References

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