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Journal Article
Clinical Chemistry, ISSN 0009-9147, 01/2016, Volume 62, Issue 1, pp. 208 - 217
Journal Article
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 | Index Medicus | Abridged Index Medicus
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 04/2017, Volume 135, Issue 4, pp. 339 - 347
Journal Article
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2017, Volume 120, Issue 3, pp. 235 - 242
Journal Article