Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation
Silvia Radenkovic, Taylor Fitzpatrick‐Schmidt, Seul Kee Byeon, Anil K. Madugundu, Mayank Saraswat, Angie Lichty, Sunnie Wong, Stephen J. McGee, Katharine Kubiak, Anna N. Ligezka, Wasantha Ranatunga, Yuebo Zhang, Tim Wood, Michael J. Friez, Katie Clarkson, Akhilesh Pandey, Julie R. Jones, Éva Morava
Topics & Concepts
HypotoniaPhenotypeMedicineWastingIntellectual disabilityChannelopathyPsychomotor retardationClinical phenotypeMuscle HypotoniaPediatricsBioinformaticsMuscle disorderWeaknessInternal medicinePathologyBiologyGeneticsGenePsychiatryAnatomyAlternative medicineGlycosylation and Glycoproteins ResearchRNA modifications and cancerPancreatic function and diabetes