Associated Papers
Exome analysis focusing on epilepsy-related genes in children and adults with sudden unexplained death.
Buerki SE et al.
Seizure, 2023
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N et al.
Journal of Inherited Metabolic Disease, 2022
Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review.
Lausmann H et al.
Frontiers in Genetics, 2022
Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic S et al.
Molecular Genetics and Metabolism, 2021
Structural and mechanistic themes in glycoconjugate biosynthesis at membrane interfaces.
Allen KN et al.
Current Opinion in Structural Biology, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Structural basis for dolichylphosphate mannose biosynthesis.
Gandini R et al.
Nature Communications, 2017
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion.
Bursle C et al.
Jimd Reports, 2017
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Yang AC et al.
Molecular Genetics and Metabolism, 2013
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).
Vleugels W et al.
Biochimie, 2011
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings.
Dancourt J et al.
Pediatric Research, 2006
Metabolic mimics: the disorders of N-linked glycosylation.
Patterson MC
Seminars in Pediatric Neurology, 2005
Congenital disorder of glycosylation (CDG) type Ie. A new patient.
García-Silva MT et al.
Journal of Inherited Metabolic Disease, 2004
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG).
Schollen E et al.
European Journal of Human Genetics : Ejhg, 2002
Congenital disorders involving defective N-glycosylation of proteins.
Schachter H
Cellular and Molecular Life Sciences : Cmls, 2001
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)
Kim S et al.
The Journal of Clinical Investigation, 2000
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
Imbach T et al.
The Journal of Clinical Investigation, 2000