• <em>ATP6V0A2</em>-Related Cutis Laxa
• A <em>Dpagt1</em> Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice
• A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice
• Assessment of the Safety and Therapeutic Benefits of Convalescent Plasma in COVID-19 Treatment: A Systematic Review and Meta-Analysis
• 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)
• Clinical, molecular and glycophenotype insights in SLC39A8-CDG
• DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature
• Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features
• Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey
• Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
• Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures
• Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis
• Metastatic Patterns of Duodenopancreatic Neuroendocrine Tumors in Patients With Multiple Endocrine Neoplasia Type 1
• 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
• Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study