• A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation
• ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
• Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
• Assessment of the Safety and Therapeutic Benefits of Convalescent Plasma in COVID-19 Treatment: A Systematic Review and Meta-Analysis
• AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)
• beta-hexosaminidase, alpha-D-mannosidase, and beta-mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I
• Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II
• Carbohydrate-deficient glycoprotein syndrome type II
• Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders
• Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
• Cerebral venous sinus thrombosis (CVST) associated with SARS-CoV-2 vaccines: clues for an immunopathogenesis common to CVST observed in COVID-19
• Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
• Conditional control of selectin ligand expression and global fucosylation events in mice with a targeted mutation at the FX locus
• Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology
• Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease
• Congenital disorders of glycosylation: a booming chapter of pediatrics
• Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)
• Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation
• DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature
• Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG)
• Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years
• From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)
• Galactose Epimerase Deficiency: Expanding the Phenotype
• Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome
• Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I
• Increased expression of beta-hexosaminidase alpha chain in cultured skin fibroblasts from patients with carbohydrate-deficient glycoprotein syndrome type I
• Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
• Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype
• Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature
• Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature
• Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
• Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
• Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia
• Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia
• Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5alpha-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case
• Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case
• Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG)
• Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation
• SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition
• Thrombophilia in a child with CDG-syndrome type I
• Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema