Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions
Karthik Muthusamy, Judit Perez Ortiz, Anna N. Ligezka, Ruqaiah Altassan, Christin Johnsen, Matthew Schultz, Marc C. Patterson, Éva Morava
Topics & Concepts
MedicinePediatricsNatural history studyAtaxiaAcetazolamideLevetiracetamNatural historyCohortNeuroimagingInternal medicineEpilepsyPsychiatryGlycosylation and Glycoproteins ResearchLysosomal Storage Disorders ResearchCarbohydrate Chemistry and Synthesis