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Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2013, Volume 72, Issue Suppl 3, pp. A117 - A117
Background Smoking is associated with the presence of autoantibodies in various diseases, such as chronic obstructive pulmonary disease (COPD)1, systemic lupus... 
Journal Article
Journal Article
Brain, ISSN 0006-8950, 2019, Volume 142, Issue 3, pp. 542 - 559
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2016, Volume 374, Issue 23, pp. 2246 - 2255
Journal Article
JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS, ISSN 0731-7085, 09/2017, Volume 143, pp. 56 - 61
Exploratory metabolomics studies of cerebrospinal fluid (CSF), using proton nuclear magnetic resonance ((1) H NMR) spectroscopy, hold major potential... 
DIAGNOSIS | CHEMISTRY, ANALYTICAL | proton nuclear magnetic resonance ( H NMR) | isoniazid | TUBERCULOUS MENINGITIS | cerebrospinal fluid (CSF) | NEUROLOGICAL DISEASE | pyrazinamide | CHILDREN | AFRICA | METABOLOMICS | VIRAL MENINGITIS | sulfamethoxazole | ACUTE BACTERIAL-MENINGITIS | ASEPTIC-MENINGITIS | PHARMACOLOGY & PHARMACY | acyclovir | EXPERIENCE
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
The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Journal Article
PLOS ONE, ISSN 1932-6203, 05/2018, Volume 13, Issue 5
Metabolomics studies of disease conditions related to chronic alcohol consumption provide compelling evidence of several perturbed metabolic pathways... 
SWIFT INCREASE | CIRRHOSIS | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | ADENINE-NUCLEOTIDE TURNOVER | SERUM | ETHANOL-INDUCED HYPERURICEMIA | LIVER-DISEASE | H-1 | MASS-SPECTROMETRY | BRAIN
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, pp. 457 - 466
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2012, Volume 21, Issue 19, pp. 4151 - 4161
Journal Article