Results 91 to 100 of about 5,529 (148)
, 2019 OBJECTIVE: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs).
Freniche, Veronica +16 more
core +1 more source
Orphanet Journal of Rare DiseasesBackground Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood.
Pedro Granjo +10 more
doaj +1 more source
Journal of Investigative Medicine High Impact Case Reports, 2013 Background . Congenital disorders of glycosylation (CDG) are a group of rare disorders in which glycosylation required for proper protein-protein interactions and protein stability is disrupted, manifesting clinically with multiple system involvement and
Bradley S. Miller MD, PhD +3 more
doaj +1 more source
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report
Orphanet Journal of Rare Diseases, 2010 Congenital disorders of glycosylation (CDG) are an expanding group of inherited metabolic diseases with multisystem involvement. ALG6-CDG (CDGIc) is an endoplasmatic reticulum defect in N-glycan assembly.
Zagal Ahmad +5 more
doaj +1 more source
Frontiers in EndocrinologyCongenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation,
Giulia Del Medico +13 more
doaj +1 more source
Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy [PDF]
, 2018 Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV2.1 channel).
Pérez, Belén +65 more
core +1 more source
The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers [PDF]
, 2018 Type I disorders of glycosylation (CDG), the most frequent of which is phosphomannomutase 2 (PMM2-CDG), are a group of diseases causing the incomplete N-glycosylation of proteins.
Cubellis, Maria Vittoria +20 more
core +1 more source
HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation [PDF]
Phosphomannomutase 2 deficiency (PMM2-CDG), the most frequent congenital disorder of glycosylation, is an autosomal recessive disease caused by biallelic pathogenic variants in the PMM2 gene. There is no cure for this multisystemic syndrome.
Briso-Montiano Pastrana, Alvaro +8 more
core +2 more sources
Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia) [PDF]
, 2015 Phosphomannomutase 2 deficiency (PMM2-CDG) patients may present as mild phenotypes, with the cerebellum frequently involved. In those cases, falsenegative results in screening may occur when applying conventional biochemical procedures.
Pérez, Belén +10 more
core +1 more source
Metabolomics characterization of PMM2-CDG patients' fibroblasts
, 2019 Metabolomics characterization of PMM2-CDG patients' fibroblasts-Short Term Mobility 2019 @ Centro de Diagnóstico de Enfermedades Moleculares, Facultad de Ciencias, Universidad Autónoma de Madrid.
G Andreotti
core