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 +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 +7 more sources
Mannose supplementation in PMM2-CDG [PDF]
Orphanet Journal of Rare Diseases, 2021 In this response to the letter by Witters et al., we refer to the authors' arguments regarding spontaneous enhancement of glycosylation and the claim, that mannose has no place in the treatment of PMM2-CDG.
Roman Taday +5 more
doaj +5 more sources
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
JIMD Reports, 2020 Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
David J Coman +2 more
exaly +3 more sources
AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG) [PDF]
Molecular Genetics and Metabolism ReportsInherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure.
M. Zhong +3 more
doaj +3 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 +8 more sources
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis [PDF]
Orphanet Journal of Rare DiseasesBackground Congenital disorders of glycosylation (CDG) are genetic diseases caused by impaired synthesis of glycan moieties linked to glycoconjugates.
Lara Cirnigliaro +10 more
doaj +5 more sources
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG [PDF]
Scientific ReportsPhosphomannomutase-2 (PMM2) deficiency represents the most common congenital disorder of glycosylation (CDG). Currently, little is known about cell metabolic alterations occurring in these patients.
Renata Mangione +20 more
doaj +3 more sources
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG [PDF]
Disease Models & Mechanisms, 2019 Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG.
Sangeetha Iyer +10 more
doaj +4 more sources
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG. [PDF]
Genes (Basel), 2023 Congenital disorders of glycosylation (CDG) and mitochondrial disorders are multisystem disorders with overlapping symptomatology. Pathogenic variants in the PMM2 gene lead to abnormal N-linked glycosylation. This disruption in glycosylation can induce endoplasmic reticulum stress, contributing to the disease pathology.
Ligezka AN +12 more
europepmc +4 more sources