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Brain Pathology, ISSN 1015-6305, 10/2009, Volume 19, Issue 4, pp. 596 - 611
Journal Article
Journal Article
Journal Article
Journal Article
NATURE PLANTS, ISSN 2055-026X, 02/2016, Volume 2, Issue 2
Precise control of cell death is essential for the survival of all organisms. Arabidopsis thaliana BRASSINOSTEROID INSENSITIVE 1-associated receptor kinase 1... 
DEFENSE RESPONSES | ACTIVATION | GROWTH | RECEPTOR-LIKE KINASES | DEFECTIVE BRASSINOSTEROID RECEPTOR | ENDOPLASMIC-RETICULUM | N-GLYCOSYLATION | QUALITY-CONTROL | BAK1 | INNATE IMMUNITY | PLANT SCIENCES
Journal Article
Glycoconjugate Journal, ISSN 0282-0080, 04/2016, Volume 33, Issue 2, pp. 237 - 244
Journal Article
RESPIRATORY MEDICINE, ISSN 0954-6111, 10/2017, Volume 131, pp. 114 - 117
Background: Alpha-l-antitrypsin (AAT) deficiency is a genetic condition that arises from mutations in the SERPINAI gene and predisposes to develop pulmonary... 
Defective SERPINA1 allele | Bronchial asthma | ALPHA-ANTITRYPSIN | CARDIAC & CARDIOVASCULAR SYSTEMS | ISOFORMS | RESPIRATORY SYSTEM | Bronchial hyperreactivity | ALPHA-1-PROTEINASE INHIBITOR | DEFICIENCY | Alpha-1-antitrypsin deficiency
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2012, Volume 106, Issue 4, pp. 442 - 454
Classic galactosemia is a potentially lethal metabolic disorder that results from profound impairment of the enzyme galactose-1-phosphate uridylyltransferase... 
LC-MS/MS | Plasma | O-glycome | N-glycome | MALDI-TOF | Classic galactosemia | MEDICINE, RESEARCH & EXPERIMENTAL | SERUM TRANSFERRIN | URIDYLTRANSFERASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GLYCANS | DEFECTIVE GALACTOSYLATION | ANTI-MULLERIAN HORMONE | HUMAN GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE | MASS-SPECTROMETRY | CLASSICAL GALACTOSEMIA | GENETICS & HEREDITY | SINGLE-FAMILY | OVARIAN-FUNCTION | Galactose - metabolism | Galactosemias - enzymology | Polysaccharides - blood | UTP-Hexose-1-Phosphate Uridylyltransferase - genetics | Humans | Glycoproteins - metabolism | Child, Preschool | Infant | Male | Treatment Outcome | Glycoproteins - blood | Glycosylation | Galactosemias - blood | Galactosemias - metabolism | Diet | UTP-Hexose-1-Phosphate Uridylyltransferase - deficiency | Polysaccharides - chemistry | Adult | Female | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | Child | Infant, Newborn | UTP-Hexose-1-Phosphate Uridylyltransferase - metabolism | Phosphates | Proteins | Peptides | Dimethyl sulfoxide | Glycoproteins | Glucose | Galactose | Mass spectrometry | Dextrose | Blood proteins | Index Medicus | Enzymes | Neonates | Data processing | Lipids | Mass spectroscopy | Infants | Galactosemia | Diets | Plasma proteins | Gut-associated lymphoid tissues | Children | Age | Genotypes | Metabolic disorders | LC-MS
Journal Article
Trends in Glycoscience and Glycotechnology, ISSN 0915-7352, 2014, Volume 26, Issue 149, pp. 41 - 57
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 354 - 365
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 29 - 41
Journal Article