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Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2018, Volume 125, Issue 1-2, pp. 44 - 52
To explore the correlation between glycosaminoglycan (GAG) levels and mucopolysaccharidosis (MPS) type, we have evaluated the GAG levels in blood of MPS II,... 
LC/MS | Heparan sulfate | Hyaluronan | Glycosaminoglycans | Mucopolysaccharidoses | Dermatan sulfate | Keratan sulfate | Chondroitin sulfate | MEDICINE, RESEARCH & EXPERIMENTAL | TANDEM MASS-SPECTROMETRY | HUMAN SERUM | PERFORMANCE LIQUID-CHROMATOGRAPHY | THIN-LAYER-CHROMATOGRAPHY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | SULFATE-DERIVED DISACCHARIDES | HEPARAN-SULFATE | CHONDROITIN/DERMATAN SULFATE | ACIDIC GLYCOSAMINOGLYCANS | Mucopolysaccharidoses - urine | Glycosaminoglycans - blood | Biomarkers - urine | Mucopolysaccharidosis III - urine | Humans | Mucopolysaccharidosis III - pathology | Child, Preschool | Keratan Sulfate - blood | Male | Heparitin Sulfate - urine | Mucopolysaccharidosis II - urine | Dermatan Sulfate - urine | Mucopolysaccharidoses - pathology | Mucopolysaccharidoses - classification | Young Adult | Glycosaminoglycans - isolation & purification | Mucopolysaccharidosis II - pathology | Tandem Mass Spectrometry | Keratan Sulfate - urine | Mucopolysaccharidosis IV - pathology | Adult | Female | Child | Glycosaminoglycans - urine | Mucopolysaccharidosis IV - urine | Mucopolysaccharidosis III - blood | Mucopolysaccharidoses - blood | Mucopolysaccharidosis VI - urine | Dermatan Sulfate - blood | Mucopolysaccharidosis VI - pathology | Biomarkers - blood | Mucopolysaccharidosis II - blood | Heparitin Sulfate - blood | Adolescent | Mucopolysaccharidosis VI - blood | Mucopolysaccharidosis IV - blood | Mucopolysaccharidosis | Sulfates | Mass spectrometry | Analysis | glycosaminoglycans | dermatan sulfate | heparan sulfate | mucopolysaccharidoses | chondroitin sulfate | hyaluronan | keratan sulfate
Journal Article
Human Mutation, ISSN 1059-7794, 05/2015, Volume 36, Issue 5, pp. 535 - 547
Bi-allelic variants in CHST14, encoding dermatan 4-O-sulfotransferase-1 (D4ST1), cause musculocontractural Ehlers-Danlos syndrome (MC-EDS), a recessive... 
Ehlers-Danlos syndrome | Dermatan sulfate epimerase-1 | Genetics(clinical) | Dermatan 4-O-sulfotransferase-1 | Review | Journal Article | Case Reports | EDS | Research Support, Non-U.S. Gov't | DSE | Genetics | Medicine(all) | CHST14 | dermatan 4‐O‐sulfotransferase‐1 | Ehlers–Danlos syndrome | dermatan sulfate epimerase‐1 | PROTEIN | ADDUCTED THUMB | CONTRACTURES | dermatan sulfate epimerase-1 | DERMATAN-4-SULFOTRANSFERASE | FOOT SYNDROME | CHST14 GENE | IDURONIC ACID | THUMB-CLUBFOOT SYNDROME | GENETICS & HEREDITY | dermatan 4-O-sulfotransferase-1 | CHONDROITIN/DERMATAN SULFATE | MUTATIONS | Exons | Humans | Extracellular Matrix - metabolism | Molecular Sequence Data | Dermatan Sulfate - biosynthesis | Male | Neoplasm Proteins - metabolism | RNA, Messenger - metabolism | DNA-Binding Proteins - metabolism | Young Adult | Ehlers-Danlos Syndrome - genetics | Facies | Antigens, Neoplasm - metabolism | Adult | Female | Sulfotransferases - metabolism | Neoplasm Proteins - genetics | Child | Skin - pathology | Sulfotransferases - genetics | Amino Acid Sequence | Antigens, Neoplasm - genetics | RNA, Messenger - genetics | DNA-Binding Proteins - genetics | Fibronectins - metabolism | Genetic Heterogeneity | Collagen - metabolism | Phenotype | Sequence Alignment | Ehlers-Danlos Syndrome - metabolism | Biopsy | Pedigree | Adolescent | Skin - ultrastructure | Ehlers-Danlos Syndrome - diagnosis | Mutation | Sulfotransferases - chemistry | Fibronectins | Glycosaminoglycans | Collagen | Physiological aspects | Genetic research | Family | Biosynthesis | Sulfates | Cell differentiation | Genetic disorders | Cell adhesion & migration
Journal Article
Journal of Neuroscience Research, ISSN 0360-4012, 12/2015, Volume 93, Issue 12, pp. 1874 - 1880
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2010, Volume 99, Issue 2, pp. 124 - 131
Journal Article
Glycobiology, ISSN 0959-6658, 07/2012, Volume 22, Issue 7, pp. 1007 - 1016
Journal Article
PLoS One, ISSN 1932-6203, 2015, Volume 10, Issue 10, p. e0140279
The epimerization of glucuronic acid into iduronic acid adds structural variability to chondroitin/dermatan sulfate polysaccharides. Iduronic acid-containing... 
L-IDURONIC ACID | EPIMERASE 2 | GENE | BIOSYNTHESIS | MULTIDISCIPLINARY SCIENCES | GLUCURONYL C5-EPIMERASE | CHONDROITIN/DERMATAN SULFATE | ABDOMINAL-WALL DEFECTS | 4-O-SULFOTRANSFERASE 1 | BRAIN | EHLERS-DANLOS-SYNDROME | Animals, Newborn | Chondroitin Sulfates - metabolism | Carbohydrate Epimerases - deficiency | Disaccharides - metabolism | Mice, Inbred C57BL | Cells, Cultured | Lymphoid Tissue - metabolism | Mice, 129 Strain | Lymphoid Tissue - growth & development | Blotting, Western | Embryo, Mammalian - metabolism | Mice, Knockout | Organogenesis | Dermatan Sulfate - metabolism | Animals | Embryo, Mammalian - embryology | Embryo, Mammalian - cytology | Chemokine CXCL13 - metabolism | Protein Binding | Fibroblasts - cytology | Carbohydrate Epimerases - genetics | Microscopy, Fluorescence | Fibroblasts - metabolism | Infants (Newborn) | Embryonic development | Research | Developmental biology | Health aspects | Neonates | CXCL13 protein | Science | Chains | Biosynthesis | Sulfates | Lymph nodes | Defects | Cell adhesion & migration | Hernia | Cartilage | Axon sprouting | Polysaccharides | Embryogenesis | Exencephaly | Fibroblasts | Saccharides | Binding | Spleen | Immunoglobulins | Organs | Embryo fibroblasts | Embryos | Acids | Lungs | Collagen | Mice | Skin | Chondroitin sulfate | Sulfate | Epimerase | Cell and Molecular Biology | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Cell- och molekylärbiologi | Medicinska och farmaceutiska grundvetenskaper
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