Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation (original) (raw)
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis
Elisa Leão-Teles, Laura Vilarinho
Glycobiology, 2003
View PDFchevron_right
Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I
Roland Contreras
Glycobiology, 2003
View PDFchevron_right
Congenital Disorders of Glycosylation: What Clinicians Need to Know?
Patryk Lipiński
Frontiers in Pediatrics, 2021
View PDFchevron_right
Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II
Ron Wevers
Clinical Chemistry, 2011
View PDFchevron_right
Glycoproteomics ofN-glycosylation by in-gel deglycosylation and matrix-assisted laser desorption/ionisation-time of flight mass spectrometry mapping: Application to congenital disorders of glycosylation
Jasna Peter-katalinic
PROTEOMICS, 2005
View PDFchevron_right
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation
Nathalie Seta
Electrophoresis, 2018
View PDFchevron_right
Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry
Jaime Brum
Clinica Chimica Acta, 2019
View PDFchevron_right
Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia
Nathalie Seta
…, 2000
View PDFchevron_right
Insights into complexity of congenital disorders of glycosylation
Sanja Dabelić
View PDFchevron_right
In: Glycans: Biochemistry, Characterization and Applications Congenital Disorders of Glycosylation
Ivan Martinez Duncker
View PDFchevron_right
Clinical glycomics for the diagnosis of congenital disorders of glycosylation
Nurulamin Abu Bakar
Journal of inherited metabolic disease, 2018
View PDFchevron_right
Congenital disorders of glycosylation: clinical and molecular studies
S. Grunewald
2006
View PDFchevron_right
Clinical and biochemical characteristics of congenital glycosylation disorders
Dorotea Ninkovic
2007
View PDFchevron_right
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I
Hana Hansíková
Journal of Inherited Metabolic Disease, 2011
View PDFchevron_right
Perspectives on Glycosylation and Its Congenital Disorders
Hudson Freeze
Trends in genetics : TIG, 2018
View PDFchevron_right
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up
Patryk Lipiński
Orphanet Journal of Rare Diseases, 2021
View PDFchevron_right
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups
Suzan Wopereis
Glycobiology, 2005
View PDFchevron_right
Update and perspectives on congenital disorders of glycosylation
Hudson Freeze
Glycobiology, 2001
View PDFchevron_right
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N‐glycan synthesis
Shaikh Naeem
Annals of Neurology, 2000
View PDFchevron_right
The Biochemical Basis of Congenital Disorders of Glycosylation
Sarah Needs
2018
View PDFchevron_right
N-Glycosylation Site Occupancy in Serum Glycoproteins Using Multiple Reaction Monitoring Liquid Chromatography-Mass Spectrometry
Andreas Hülsmeier
Molecular & Cellular Proteomics, 2007
View PDFchevron_right
[Congenital disorders of glycosylation]
S. Vuillaumier-barrot, T. Dupré
Annales pharmaceutiques françaises, 2003
View PDFchevron_right
Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1
Stephanie Grünewald
Journal of Inherited Metabolic Disease, 2022
View PDFchevron_right
Congenital Disorders of Glycosylation: A Review
S. Grunewald
Pediatric Research, 2002
View PDFchevron_right
Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases
Hudson Freeze
Glycobiology, 2018
View PDFchevron_right
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I
Iwona Kątnik-Prastowska, Mirosława Ferens-Sieczkowska
Archivum immunologiae et therapiae experimentalis, 2002
View PDFchevron_right
Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge
Hudson Freeze
Journal of Biological Chemistry, 2013
View PDFchevron_right
The Emerging Field of Diagnostics in Glycosylation Disorders
Stephanie Grünewald
Pediatrics & Therapeutics, 2013
View PDFchevron_right
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis
Simon Levinson
Glycobiology, 2001
View PDFchevron_right
Disorders in protein glycosylation and potential therapy: Tip of an iceberg?
Hudson Freeze
The Journal of Pediatrics, 1998
View PDFchevron_right
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation
Stephanie Grünewald
Molecular Genetics and Metabolism Reports, 2016
View PDFchevron_right
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
Carmen Brewer
Genetics in Medicine, 2016
View PDFchevron_right