• ALG11-CDG syndrome: Expanding the phenotype
• 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)
• Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
• Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
• Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (<em>ATP6AP1</em>), and Liver Transplantation
• Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation
• Defining a new immune deficiency syndrome: MAN2B2-CDG
• Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid
• Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis
• Missense variant c.1460 T &gt; 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
• Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study
• Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG
• Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation
• 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
• SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition
• Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation