Anthropometric Phenotype of Patients with PMM2-CDG [PDF]
Children, 2021 Background: Growth failure is commonly reported in children with PMM2-CDG. The aim of the study was to delineate the longitudinal anthropometric phenotype of patients with PMM2-CDG and attempt to find some correlations between the genotype and ...
Patryk Lipiński +3 more
doaj +5 more sources
PMM2‐CDG caused by uniparental disomy: Case report and literature review [PDF]
JIMD Reports, 2020 Background Phosphomannomutase 2 deficiency (PMM2‐CDG) affects glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of multiple proteins.
Laurien Vaes +6 more
doaj +6 more sources
Unsuccessful intravenous D-mannose treatment in PMM2-CDG [PDF]
Orphanet Journal of Rare Diseases, 2019 Background PMM2-CDG (Phosphomannomutase 2 - Congenital disorder of glycosylation-Ia; CDG-Ia) is the most common glycosylation defect, often presenting as a severe multisystem disorder that can be fatal within the first years of life.
Sarah C. Grünert +8 more
doaj +6 more sources
Genotype-Phenotype Correlations in PMM2-CDG [PDF]
Genes, 2021 PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients.
David Cassiman +2 more
exaly +6 more sources
A complement C4–derived glycopeptide is a biomarker for PMM2-CDG [PDF]
JCI InsightBACKGROUND Diagnosis of PMM2-CDG, the most common congenital disorder of glycosylation (CDG), relies on measuring carbohydrate-deficient transferrin (CDT) and genetic testing. CDT tests have false negatives and may normalize with age.
Kishore Garapati +22 more
doaj +4 more sources
A comprehensive update of genotype–phenotype correlations in PMM2-CDG: insights from molecular and structural analyses [PDF]
Orphanet Journal of Rare DiseasesPMM2-CDG (phosphomannomutase 2-deficiency) is the most prevalent N-glycosylation disorder and results from impairments of PMM2 activity. This disease presents a large variety of pathogenic variants, which cause a wide phenotypical spectrum.
Tiago Oliveira +6 more
doaj +2 more sources
Platelet Membrane Glycoprofiling in a PMM2-CDG Patient [PDF]
Journal of Inborn Errors of Metabolism and Screening, 2021 Congenital disorders of glycosylation (CDG) are metabolic hereditary diseases caused by defects in the synthesis of glycoconjugates. CDG have been described in sugar-nucleotide biosynthesis and transporter, glycosyltransferases, vesicular transport, as ...
G.M. Papazoglu +9 more
doaj +6 more sources
Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report [PDF]
Frontiers in Genetics, 2020 Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG.
Katerina Slaba +14 more
doaj +2 more sources
PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India [PDF]
Global Medical Genetics, 2023 Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy.
N. Sreedevi +4 more
doaj +2 more sources
Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG). [PDF]
J Inherit Metab DisAbstract PMM2‐CDG (formerly CDG‐1a), the most common type of congenital disorders of glycosylation, is inherited in an autosomal recessive pattern. PMM2‐CDG frequently presents in infancy with multisystemic clinical involvement, and it has been diagnosed in over 1000 people worldwide.
Weixel T +6 more
europepmc +2 more sources