Related Experiment Videos
What's new in congenital disorders of glycosylation?
1Department of Paediatrics, Centre for Metabolic Disease, University of Leuven, Leuven, Belgium. jaak.jaeken.uz.kuleuven.ac.be
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
CDG due to Defective Membrane Transporters: Update.
Journal of inherited metabolic disease·2026
Assessing the effects of PMM2 variants on protein stability.
Molecular genetics and metabolism·2021
The challenge of CDG diagnosis.
Molecular genetics and metabolism·2018
Muscle biopsy to end a diagnostic odyssey in a genetically complex case of spinal muscular atrophy type 3: the importance of "old school" in the next-generation sequencing era.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Prenatal multimodality imaging of the fetal septum pellucidum-verum complex: A retrospective imaging study of suspected septopreoptic holoprosencephaly.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Pediatric-onset multiple sclerosis in Finland.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Seizures in SRRM2-related disorder and treatment response.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Treatment responses to antiseizure medication in children with Angelman syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Repetitive nerve stimulation in juvenile myasthenia gravis: Diagnostic strategy and area decrement value.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society·2026
Role of the Benzyl Substituent in Binding of f-Elements by Diglycolamides: A Combined Solvent Extraction, Spectroscopic, and X-Ray Diffraction Study.
Chemistry (Weinheim an der Bergstrasse, Germany)·2026
Synthesis and Characterization of Hemiindigo-Based Glycoside and Glycomacrocycle.
Chemistry (Weinheim an der Bergstrasse, Germany)·2026
Nitrogen-functionalized 2-deoxy sp2-iminoglycolipids: Stereoselective synthesis and biological evaluation.
European journal of medicinal chemistry·2026
Human NEU3 and NEU4 enzymes prefer short polysialic acid substrates.
Carbohydrate research·2026