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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

2020Molecular Genetics and Metabolism25 citationsDOIOpen Access PDF

Topics & Concepts

HypotoniaPhenotypeMedicineWastingIntellectual disabilityChannelopathyPsychomotor retardationClinical phenotypeMuscle HypotoniaPediatricsBioinformaticsMuscle disorderWeaknessInternal medicinePathologyBiologyGeneticsGenePsychiatryAnatomyAlternative medicineGlycosylation and Glycoproteins ResearchRNA modifications and cancerPancreatic function and diabetes
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation | Litcius