Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions

Autor: Muthusamy, Karthik, Perez-Ortiz, Judit M., Ligezka, Anna N., Altassan, Ruqaiah, Johnsen, Christin, Schultz, Matthew J., Patterson, Marc C., Morava, Eva
Zdroj: In Genetics in Medicine February 2024 26(2)
Databáze: ScienceDirect