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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2018, Volume 41, Issue 3, pp. 499 - 513
Journal Article
Pediatrics, ISSN 0031-4005, 07/2014, Volume 134, Issue 1, pp. E279 - E283
Hepatopathy is the most common feature in the Congenital Disorders of Glycosylation (CDG). More than 70 subtypes have been identified in this growing group of... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Journal Article
ChemBioChem, ISSN 1439-4227, 2016, Volume 17, Issue 18, pp. 1759 - 1770
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 29 - 41
Journal Article
Translational Research, ISSN 1931-5244, 2015, Volume 166, Issue 6, pp. 639 - 649.e1
Diagnostic screening of the congenital disorders of glycosylation (CDG) generally involves isoelectric focusing of plasma transferrin, a robust method easily... 
Internal Medicine | PGM1 Phosphoglucomutase 1 | DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 | QTOF Quadrupole Time Of Flight | CDG Congenital Disorders of Glycosylation | SLC35C1 GDP-fucose transporter | B4GALT1 β-1,4-galactosyltransferase 1 | TIEF Transferrin Isoelectric focusing | CMP cytidine monophosphate | HPLC High pressure liquid chromatography | NHS N-Hydroxysuccinimidyl | Tf transferrin | MAN1B1 mannosyl-oligosaccharide 1,2-alpha-mannosidase | MS Mass spectrometry | Tris 2-Amino-2-(hydroxymethyl)-1,3-propanediol | ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 | HUS Hemolytic uremic syndrome | GDP guanosine diphosphate | COG1 component of oligomeric Golgi complex 1 | ESI Electron spray ionization | UDP uridine disphosphate | VPS13B vacuolar protein sorting 13 homolog B | MALDI Matrix assisted laser desorption ionization | PMM2 phosphomannomutase 2 | EDTA Ethylenediaminetetraacetic acid | SLC35A2 UDP-galactose transporter | IEF Isoelectric focusing | LC Liquid Chromatography | MGAT2 mannosyl(α-1,6-)-glycoprotein β-1,2-N-acetylglucosaminyltransferase | CV Coefficient of variation | Abbreviations ApoCIII apolipoprotein CIII | SLC35A1 CMP-sialic acid transporter | CE Capillary electrophoresis | TMEM165 transmembrane protein 165 | MEDICINE, RESEARCH & EXPERIMENTAL | SERUM TRANSFERRIN | DEFECTS | CDG | IMMUNOGLOBULINS | CAPILLARY-ZONE-ELECTROPHORESIS | CHROMATOGRAPHY | N-GLYCAN | INTELLECTUAL DISABILITY | MEDICINE, GENERAL & INTERNAL | CARBOHYDRATE-DEFICIENT TRANSFERRIN | MEDICAL LABORATORY TECHNOLOGY | HYPOGLYCOSYLATION | Transferrin - analysis | Congenital Disorders of Glycosylation - classification | Mass Spectrometry - methods | Humans | Congenital Disorders of Glycosylation - diagnosis | Polysaccharides | Transferrin | Genetic disorders | Analysis | Liquid chromatography | Galactose | Mass spectrometry | Usage | High performance liquid chromatography
Journal Article
Nature Communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, pp. 13 - 26
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2016, Volume 98, Issue 2, pp. 310 - 321
Journal Article