Associated Papers
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
Novel Genetic Variants of ALG6 and GALNTL4 of the Glycosylation Pathway Predict Cutaneous Melanoma-Specific Survival.
Zhou B et al.
Cancers, 2020
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C et al.
Clinical Genetics, 2019
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
Morava E et al.
Journal of Inherited Metabolic Disease, 2016
Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor.
Shrimal S et al.
Glycobiology, 2015
Congenital disorder of glycosylation type Ic: report of a Japanese case.
Ichikawa K et al.
Brain & Development, 2013
ALG6-CDG in South Africa: Genotype-Phenotype Description of Five Novel Patients.
Dercksen M et al.
Jimd Reports, 2013
Frequency Determination of α-1,3 Glucosyltransferase p.Y131H and p.F304S Polymorphisms in the Croatian Population Revealed Five Novel Single Nucleotide Polymorphisms in the hALG6 Gene.
Goreta SS et al.
Genetic Testing and Molecular Biomarkers, 2012
Insights into complexity of congenital disorders of glycosylation.
Goreta SS et al.
Biochemia Medica, 2012
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I).
Vleugels W et al.
Biochimie, 2011
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).
Miller BS et al.
Molecular Genetics and Metabolism, 2011
Employment of single-strand conformation polymorphism analysis in screening for α-1,3 glucosyltransferase gene mutation A333V in Croatian population.
Goreta SS et al.
Journal of Clinical Laboratory Analysis, 2011
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.
Drijvers JM et al.
Clinical Genetics, 2010
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.
Al-Owain M et al.
Orphanet Journal of Rare Diseases, 2010
[Analysis on gene mutations in a Chinese pedigree with autosomal dominant inheritance cataract].
Yan M et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
Leroy JG
Pediatric Research, 2006
Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation.
Eklund EA et al.
Biochemical and Biophysical Research Communications, 2006
The achiasmia spectrum: congenitally reduced chiasmal decussation.
Sami DA et al.
The British Journal of Ophthalmology, 2005
Metabolic mimics: the disorders of N-linked glycosylation.
Patterson MC
Seminars in Pediatric Neurology, 2005
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient.
Sun L et al.
American Journal of Medical Genetics. Part A, 2005
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.
Westphal V et al.
Human Mutation, 2003
Congenital disorder of glycosylation Ic in patients of Indian origin.
Newell JW et al.
Molecular Genetics and Metabolism, 2003
Congenital disorders of glycosylation: a review.
Grunewald S et al.
Pediatric Research, 2002
Congenital disorders involving defective N-glycosylation of proteins.
Schachter H
Cellular and Molecular Life Sciences : Cmls, 2001
The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic.
Vuillaumier-Barrot S et al.
Journal of Human Genetics, 2001
Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.
Westphal V et al.
The American Journal of Pathology, 2000
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic.
Imbach T et al.
Human Genetics, 2000
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
Imbach T et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
[Investigation on 82 families with congenital cataract].
Jin YZ
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 1983