Associated Papers
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
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.
Meroni M et al.
Frontiers in Nutrition, 2022
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
Starosta RT et al.
European Journal of Medical Genetics, 2020
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.
Citro V et al.
International Journal of Molecular Sciences, 2018
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.
de la Morena-Barrio ME et al.
Pediatric Research, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.
Sabry S et al.
Orphanet Journal of Rare Diseases, 2016
Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor.
Shrimal S et al.
Glycobiology, 2015
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
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
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.
Jones MA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic).
Miller BS et al.
Molecular Genetics and Metabolism, 2011
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
Haeuptle MA et al.
Human Mutation, 2009
Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.
Westphal V et al.
Human Mutation, 2003
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