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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
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2013, Volume 36, Issue 2, pp. 247 - 255
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 12/2012, Volume 107, Issue 4, pp. 705 - 710
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2017, Volume 40, Issue 1, pp. 151 - 158
Background Mucopolysaccharidoses (MPS) are a group of inborn errors of metabolism that are progressive and usually result in irreversible skeletal, visceral,... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ASSAY | LYSOSOMAL STORAGE DISORDERS | HUMAN SERUM | DRIED BLOOD SPOTS | IVA | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | SULFATE-DERIVED DISACCHARIDES | HEPARAN-SULFATE | ENZYME REPLACEMENT THERAPY | KERATAN SULFATE | Acetylglucosaminidase - blood | Glycosaminoglycans - blood | Polysaccharide-Lyases - metabolism | Chondroitinases and Chondroitin Lyases - metabolism | Polysaccharide-Lyases - blood | Disaccharides - metabolism | Glycosaminoglycans - metabolism | Mucopolysaccharidoses - blood | Mucopolysaccharidoses - metabolism | Humans | Dermatan Sulfate - blood | Neonatal Screening - methods | Heparitin Sulfate - metabolism | Mucopolysaccharidoses - diagnosis | Dermatan Sulfate - metabolism | Pilot Projects | Heparitin Sulfate - blood | Chondroitinases and Chondroitin Lyases - blood | Acetylglucosaminidase - metabolism | Disaccharides - blood | Chromatography, Liquid - methods | Tandem Mass Spectrometry - methods | Infant, Newborn | Measurement | Infants (Newborn) | Analysis | Brain damage | Liquid chromatography | Sulfates | Mass spectrometry | glycosaminoglycans | tandem mass spectrometry | disaccharides | mucopolysaccharidoses | newborn screening
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2013, Volume 110, Issue 1-2, pp. 42 - 53
Journal Article
Journal Article