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
An X-ray Mini-survey of Nearby Edge-on Starburst Galaxies II. The Question of Metal Abundance [PDF]
, 1999 (abbreviated) We have undertaken an X-ray survey of a far-infrared flux limited sample of seven nearby edge-on starburst galaxies. Here, we examine the two X-ray-brightest sample members NGC 253 and M 82 in a self-consistent manner, taking account of the
Arnaud M. +15 more
core +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
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides [PDF]
, 2009 Defects in the biosynthesis of the oligosaccharide precursor for N-glycosylation lead to decreased occupancy of glycosylation sites and thereby to diseases known as congenital disorders of glycosylation (CDG).
Haeuptle, M A, Hennet, T
core +1 more source
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation [PDF]
, 2016 The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Bliss, E +11 more
core +2 more sources
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
N-glükosüülimise kaasasündinud defektid: kirjanduse ülevaade ja haigusjuhu kirjeldus [PDF]
, 2014 Glükosüülimise kaasasündinud defektid on kiiresti kasvav, erinevaid elundisüsteeme haarav ainevahetushaiguste rühm. Glükosüülimine on valkude modifitseerimise protsess, mille tulemusel sünteesitakse glükoproteiin.
Joost, Kairit +3 more
core +2 more sources
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
The reason why doping causes superconductivity in LaFeAsO
, 2011 The experimental observation of superconductivity in LaFeAsO appearing on doping is analyzed with the group-theoretical approach that evidently led in a foregoing paper (J.
C. Bradley +31 more
core +2 more sources
N-glycosylation site occupancy in serum glycoproteins using multiple reaction monitoring liquid chromatography-mass spectrometry [PDF]
, 2007 Congenital disorders of glycosylation (CDGs) are a family of N-linked glycosylation defects associated with severe clinical manifestations. In CDG type-I, deficiency of lipid-linked oligosaccharide assembly leads to the underoccupancy of N-glycosylation ...
Hennet, T +2 more
core +1 more source