Results 31 to 40 of about 1,710 (156)
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.
Hossein Moravej +10 more
doaj +1 more source
PMM2‐CDG caused by uniparental disomy: Case report and literature review
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 +1 more source
Italian Journal of Pediatrics, 2022 Background Congenital Disorders of Glycosylation (CDG) are a large group of inborn errors of metabolism with more than 140 different CDG types reported to date (1).
E. Lebredonchel +6 more
doaj +1 more source
Frontiers in Endocrinology, 2023 Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes.
Congli Chen, Yanmei Sang
doaj +1 more source
Expanding the Spectrum of PMM2-CDG Phenotype [PDF]
, 2011 Congenital Disorders of Glycosylation (CDG) are a group of recently described inborn errors of metabolism affecting glycosylation. CDG are disorders that have been reported with a great variability in the clinical presentation, especially for the most common PMM2-CDG.
Sandrine, Vuillaumier-Barrot +5 more
openaire +2 more sources
Orphanet Journal of Rare Diseases, 2021 PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients.
Peter Witters +7 more
doaj +1 more source
Renal involvement in PMM2-CDG, a mini-review [PDF]
Molecular Genetics and Metabolism, 2018 Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation.
Altassan, Ruqaiah +7 more
openaire +2 more sources
Molecular Genetics and Metabolism Reports, 2020 Variants in Phosphomannomutase 2 (PMM2) lead to PMM2-CDG, the most frequent congenital disorder of glycosylation (CDG). We here describe the disease course of a ten-month old patient who presented with the classical PMM2-CDG symptoms as cerebellar ...
Marlen Görlacher +12 more
doaj +1 more source
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG). [PDF]
PLoS ONE, 2016 PMM2-CDG is the most common N-glycosylation defect and shows an increased risk of recurrent and/or severe, sometimes fatal, infections in early life. We hypothesized that natural killer (NK) cells, as important mediators of the immune response against ...
Roberto García-López +7 more
doaj +1 more source
PMM2-CDG T237M Mutation in a Patient with Cerebral Palsy-Like Phenotypes Reported from South India
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 +1 more source