Results 71 to 80 of about 784 (133)
Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley +1 more source
Case Reports in Pediatrics, Volume 2025, Issue 1, 2025.Congenital disorders of glycosylation (CDG) constitute a group of rare genetic metabolic diseases caused by defects in the synthesis and modification of oligosaccharides. CDG‐Ie is a rare subtype caused by mutations in the DPM1 gene. We describe a female patient who presented with ocular abnormalities, motor retardation, hypotonia, hepatic dysfunction,
Wei Song +4 more
wiley +1 more source
Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation
G3: Genes, Genomes, Genetics, 2019 Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally.
Jessica P. Lao +5 more
doaj +1 more source
Human Mutation, Volume 2025, Issue 1, 2025.SLC35A1‐CDG is a very rare type of congenital disorders of glycosylation (CDG) with only five cases known to date. Here, we review the literature and present new data from a sixth patient carrying the uncharacterized variant c.133A>G; p.Thr45Ala in the SLC35A1 gene.
Kristina Falkenstein +14 more
wiley +1 more source
Insights Into the Pathological Glycosylation Associated With COG6‐CDG
Human Mutation, Volume 2025, Issue 1, 2025.Background and Aims Congenital disorders of glycosylation (CDG) are rare diseases caused by defects in protein glycosylation. We present an infant with multisystemic clinical involvement, diagnosed with COG6‐CDG. Methods Serum and transferrin‐linked N‐glycans, as well as serum and apolipoprotein CIII–linked O‐glycans, were analyzed by MALDI mass ...
Zuzana Pakanová +22 more
wiley +1 more source
Phosphomannomutase deficiency (PMM2-CDG)
, 2015 Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation
Serrano, Mercedes +23 more
openaire +1 more source
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG
Journal of Medical Genetics, 2018 Introduction Phosphomannomutase-2 deficiency (PMM2-CDG) is associated with a recognisable facial pattern. There are no early severity predictors for this disorder and no phenotype–genotype correlation. We performed a detailed dysmorphology evaluation to describe facial gestalt and its changes over time, to train ...
Antonio Martinez-Monseny +14 more
openaire +4 more sources
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
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
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