ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12527
Abstract: Congenital disorders of glycosylation are a continuously expanding group of monogenic disorders of glycoprotein and glycolipid glycan biosynthesis. These disorders mostly manifest with multisystem involvement. Individuals with ALG8‐CDG commonly present with hypotonia, protein‐losing enteropathy, and… read more here.
Keywords: cdg; alg8 cdg; clinical management; molecular phenotypic ... See more keywords
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
Standardized assessment of outcome and complications in chronic subdural hematoma: results from a large case series
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurochirurgica"
DOI: 10.1007/s00701-019-03884-7
Abstract: IntroductionChronic subdural hematomas (cSDH) are commonly deemed to have a benign prognosis. However, detailed and standardized data describing outcome and complications in a large prospective patient cohort is lacking.MethodsRetrospective analysis of prospectively collected data in… read more here.
Keywords: cdg; cdg cdg; assessment outcome; standardized assessment ... See more keywords
ALG12-CDG: novel glycophenotype insights endorse the molecular defect
Sign Up to like & getrecommendations! Published in 2019 at "Glycoconjugate Journal"
DOI: 10.1007/s10719-019-09890-2
Abstract: Congenital disorders of glycosylation (CDG) are genetic diseases characterized by deficient synthesis (CDG type I) and/or abnormal processing (CDG type II) of glycan moieties linked to protein and lipids. The impact of the molecular defects… read more here.
Keywords: alg12 cdg; cdg; endorse molecular; serum ... 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
CCDC115-CDG: A new rare and misleading inherited cause of liver disease.
Sign Up to like & getrecommendations! Published in 2018 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.05.002
Abstract: Congenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases. Among them, COG-CDG, ATP6V0A2-CDG, TMEM199-CDG and CCDC115-CDG have been shown to disturb Golgi vesicular… read more here.
Keywords: liver disease; cdg; ccdc115 cdg;
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2020.100637
Abstract: Congenital Disorders of Glycosylation (CDG) are scarcely reported from Latin America. We here report on a Mexican mestizo with a multi-systemic syndrome including neurological involvement and a type I transferrin (Tf) isoelectric focusing (IEF) pattern.… read more here.
Keywords: cdg; first pmm2; exome sequencing; mexican mestizo ... See more keywords
MAN1B1-CDG: Three new individuals and associated biochemical profiles
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100775
Abstract: Congenital disorders of glycosylation (CDG) constitute an ever-growing group of genetic diseases affecting the glycosylation of proteins. CDG individuals usually present with severe multisystem disorders. MAN1B1-CDG is a CDG with nonspecific clinical symptoms such as… read more here.
Keywords: cdg; three new; cdg three; new individuals ... See more keywords
Supramolecular Cyclic Dinucleotide Nanoparticles for STING-Mediated Cancer Immunotherapy.
Sign Up to like & getrecommendations! Published in 2023 at "ACS nano"
DOI: 10.1021/acsnano.2c12685
Abstract: Activation of stimulator of interferon genes (STING) can reprogram the immunosuppressive tumor microenvironment (TME) by initiating innate and adaptive immunity. As natural STING agonists, clinical translation of cyclic dinucleotides (CDNs) has been challenged by their… read more here.
Keywords: cdg; mediated cancer; cyclic dinucleotide; sting mediated ... See more keywords
Expanding the phenotype of metabolic cutis laxa with an additional disorder of N-linked protein glycosylation
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-017-0044-8
Abstract: Genetic syndromes associated with cutis laxa (CL) and wrinkled skin are multisystem disorders with progeroid features, including sagging, lax and wrinkled skin [1, 2]. Metabolic CL is genetically heterogeneous. We previously reported on the frequently… read more here.
Keywords: cdg; mim; glycosylation; cutis laxa ... See more keywords
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0301-4
Abstract: PurposePMM2-CDG is the most common congenital disorder of glycosylation (CDG), which presents with either a neurologic or multisystem phenotype. Little is known about the longitudinal evolution.MethodsWe performed data analysis on PMM2-CDG patients’ clinical features according… read more here.
Keywords: cdg; follow pmm2; term follow; long term ... See more keywords