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Journal of Pharmaceutical and Biomedical Analysis, ISSN 0731-7085, 2017, Volume 5, pp. 56 - 61
Journal Article
Chemometrics and Intelligent Laboratory Systems, ISSN 0169-7439, 2017, Volume 164, pp. 83 - 93
Journal Article
European Respiratory Journal, ISSN 0903-1936, 2016, Volume 48, pp. 577 - 579
Journal Article
Journal of Lipid Research (Online), ISSN 0022-2275, 2017, Volume 58, pp. 1002 - 1007
Cerebrotendinous xanthomatosis (CTX) is a treatable neurodegenerative metabolic disorder of bile acid synthesis in which symptoms can be prevented if treatment... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2016, Volume 374, Issue 23, pp. 2246 - 2255
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 American Journal of Human Genetics, ISSN 0002-9297, 2009, Volume 85, Issue 3, pp. 354 - 363
Sufficient folate supplementation is essential for a multitude of biological processes and diverse organ systems. At least five distinct inherited disorders of... 
SPECTROSCOPY | DNA | GENETICS & HEREDITY | RATS | MODEL | IDENTIFICATION | MOLECULAR-BASIS | MICE LACKING | BRAIN | METHIONINE | INOSITOL | Folate Receptors, GPI-Anchored | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Gene Expression Profiling | RNA, Messenger - metabolism | Myelin Sheath - metabolism | Brain - metabolism | Biological Transport | DNA Mutational Analysis | Membrane Transport Proteins - genetics | Carrier Proteins - chemistry | Female | Membrane Transport Proteins - metabolism | Receptors, Cell Surface - chemistry | Amino Acid Sequence | Folate Receptor 1 | RNA, Messenger - genetics | Receptors, Cell Surface - metabolism | Mutant Proteins - metabolism | Neurodegenerative Diseases - genetics | Neurodegenerative Diseases - therapy | Mutation - genetics | Organ Specificity | Carrier Proteins - genetics | Carrier Proteins - metabolism | Models, Biological | Brain - pathology | Brain Mapping | Folic Acid - metabolism | Receptors, Cell Surface - genetics | Myelination | Gene mutations | Analysis | Nutritional aspects | Causes of | Nervous system | Genetic aspects | Degeneration | Health aspects | Folic acid | Clinical Medicine | Medicinsk genetik | Basic Medicine | Medical Genetics | Pediatrics | Radiologi och bildbehandling | Medical and Health Sciences | Medicin och hälsovetenskap | Pediatrik | Medicinska och farmaceutiska grundvetenskaper | Radiology, Nuclear Medicine and Medical Imaging | Klinisk medicin
Journal Article
European Respiratory Journal, ISSN 0903-1936, 2016, Volume 48, Issue 2, pp. 577 - 579
Early detection of Pseudomonas aeruginosa in cystic fibrosis (CF) patients is crucial, since eradication in a later stage is extremely difficult [1]. Until... 
RESPIRATORY SYSTEM | PSEUDOMONAS-AERUGINOSA | Cystic Fibrosis - metabolism | Cystic Fibrosis - microbiology | Humans | Male | Case-Control Studies | Young Adult | Hydrogen Cyanide - metabolism | Staphylococcal Infections - diagnosis | Adolescent | Adult | Female | Child | Staphylococcus aureus | Staphylococcal Infections - metabolism
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2012, Volume 90, Issue 3, pp. 457 - 466
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Journal Article
Annals of Neurology, ISSN 0364-5134, 2012, Volume 72, Issue 4, pp. 550 - 558
Journal Article