Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation

A capillary zone electrophoresis method for detection of Apolipoprotein C-III glycoforms and other related artifactually modified species

(2018) Coralie Ruel et al.   JOURNAL OF CHROMATOGRAPHY A

Automated High-Throughput Permethylation for Glycosylation Analysis of Biologics Using MALDI-TOF-MS

(2016) Archana Shubhakar et al.   ANALYTICAL CHEMISTRY

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies

(2015) W. Zhang et al.   CLINICAL CHEMISTRY

UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3) Transporters Form Glycosylation-related Complexes with Mannoside Acetylglucosaminyltransferases (Mgats)

(2015) Dorota Maszczak-Seneczko et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis

(2015) Stéphanie Yen-Nicolaÿ et al.   Proteomics Clinical Applications

Evaluation of a combined glycomics and glycoproteomics approach for studying the major glycoproteins present in biofluids: Application to cerebrospinal fluid

(2015) Arnaud Goyallon et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Structure and function of nucleotide sugar transporters: Current progress

(2014) Barbara Hadley et al.   Computational and Structural Biotechnology Journal

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

(2013) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Serum Glycome Profiling: A Biomarker for Diagnosis of Ovarian Cancer

(2013) Karina Biskup et al.   JOURNAL OF PROTEOME RESEARCH

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

(2012) Sharita Timal et al.   HUMAN MOLECULAR GENETICS

Vertebrate protein glycosylation: diversity, synthesis and function

(2012) Kelley W. Moremen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II

(2011) M. Guillard et al.   CLINICAL CHEMISTRY

Metabolic cutis laxa syndromes

(2011) Miski Mohamed et al.   JOURNAL OF INHERITED METABOLIC DISEASE

How to find and diagnose a CDG due to defective N-glycosylation

(2011) Dirk J. Lefeber et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Congenital disorders of glycosylation

(2010) Jaak Jaeken   Annals of the New York Academy of Sciences

Immunoglobulins are the major glycoproteins involved in the modifications of total serumN-glycome in cirrhotic patients

(2010) André Klein et al.   Proteomics Clinical Applications

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

(2009) Mailys Guillard et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A new Capillary Zone Electrophoresis method for the screening of Congenital Disorders of Glycosylation (CDG)

(2009) Fabienne Parente et al.   CLINICA CHIMICA ACTA

GlycoWorkbench: A Tool for the Computer-Assisted Annotation of Mass Spectra of Glycans†

(2008) Alessio Ceroni et al.   JOURNAL OF PROTEOME RESEARCH

High-throughput solid-phase permethylation of glycans prior to mass spectrometry

(2008) Pilsoo Kang et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation

(2007) Renate Zeevaert et al.   MOLECULAR GENETICS AND METABOLISM