Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12595
Abstract: Congenital disorders of glycosylation (CDG) and Niemann‐Pick type C (NPC) disease are inborn errors of metabolism that can both present with infantile‐onset severe liver disease and other multisystemic manifestations. Plasma bile acid and N‐palmitoyl‐O‐phosphocholineserine (PPCS)… read more here.
Keywords: cdg; disease; disorders glycosylation; palmitoyl phosphocholineserine ... See more keywords
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0066-y
Abstract: Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild… read more here.
Keywords: literature; congenital disorders; disorders glycosylation; review ... See more keywords
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene.
Sign Up to like & getrecommendations! Published in 2019 at "Neurologia"
DOI: 10.1016/j.nrl.2017.05.002
Abstract: La glucosilación de las proteínas es fundamental en el correcto funcionamiento de numerosos procesos biológicos, como el plegamiento y la estabilidad de las proteínas, la unión a receptores intracelulares, la comunicación intracelular, etc.1. Las mutaciones… read more here.
Keywords: congenital disorders; las prote; los; disorders glycosylation ... See more keywords
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Sign Up to like & getrecommendations! Published in 2017 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2016.12.014
Abstract: BACKGROUND Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a screening test for CDG type I (CDG-I) and type II (CDG-II).… read more here.
Keywords: cdg; cdg cdg; congenital disorders; disorders glycosylation ... See more keywords
B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13735
Abstract: A congenital disorder of glycosylation due to biallelic mutations in B4GALT1 has been previously reported in only three patients with two different mutations. Through homozygosity mapping followed by segregation analysis in an extended pedigree, we… read more here.
Keywords: b4galt1 congenital; congenital disorders; disorders glycosylation; phenotypic ... See more keywords
Hyperkinetic movement disorders: expanding the phenotype of congenital disorders of glycosylation
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Neurology"
DOI: 10.1111/ene.14013
Abstract: Congenital disorders of glycosylation (CDG) constitutes a rare group of inborn error of metabolism with myriad clinical presentation due to multisystem involvement. They are caused by mutations in the genes encoding for enzymes involved in… read more here.
Keywords: hyperkinetic movement; congenital disorders; disorders glycosylation; expanding phenotype ... See more keywords
Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.696918
Abstract: Background: Congenital disorders of glycosylation (CDG) and NGLY1-CDDG (NGLY1-congenital disorder of deglycosylation) usually represent multisystem (especially neurovisceral) diseases with liver involvement reported in some of them. The aim of the study was to characterize the… read more here.
Keywords: disorders glycosylation; deglycosylation; congenital disorders; liver involvement ... See more keywords
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review
Sign Up to like & getrecommendations! Published in 2021 at "Diagnostics"
DOI: 10.3390/diagnostics11081438
Abstract: Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications including skeletal involvement and reduced bone… read more here.
Keywords: cdg; bone mineral; congenital disorders; disorders glycosylation ... See more keywords
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13020359
Abstract: Purpose: Uniparental disomy (UPD) is a rare chromosomal abnormality. We performed whole-exosome sequencing (WES) in cases of early-onset retinal dystrophy and identified two cases likely caused by UPD. Herein, we report these two cases and… read more here.
Keywords: rp1 related; chromosome; retinal dystrophy; disorders glycosylation ... See more keywords
A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph19116829
Abstract: Congenital Disorders of Glycosylation (CDG) are a large family of rare genetic diseases for which effective therapies are almost nonexistent. To better understand the reasons behind this, to analyze ongoing therapy research and development (R&D)… read more here.
Keywords: disorders glycosylation; community led; community; therapy research ... See more keywords
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23158725
Abstract: Advances in research have boosted therapy development for congenital disorders of glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid glycosylation and glycosylphosphatidylinositol anchor biosynthesis. The (re)use of known drugs for novel… read more here.
Keywords: drug repositioning; disorders glycosylation; systematic review; glycosylation cdg ... See more keywords