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Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2018, Volume 41, Issue 2, pp. 221 - 229
Mucopolysaccharidosis type II (MPSII) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene (IDS, Xq28).... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | HUNTER-SYNDROME | DEFECTS | PROTEIN | DISEASE | GROWTH | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | NEURONS | ENZYME REPLACEMENT THERAPY | Neurons - pathology | Iduronate Sulfatase - metabolism | Oligodendrocyte Precursor Cells - enzymology | Neuroglia - pathology | Humans | Astrocytes - pathology | Lysosomes - enzymology | Male | Astrocytes - enzymology | Neurogenesis | Mucopolysaccharidosis II - pathology | Mucopolysaccharidosis II - genetics | Female | Lysosomes - pathology | Induced Pluripotent Stem Cells - pathology | Induced Pluripotent Stem Cells - enzymology | Mucopolysaccharidosis II - enzymology | Glycosaminoglycans - metabolism | Neuroglia - enzymology | Cells, Cultured | Oligodendrocyte Precursor Cells - pathology | Neural Stem Cells - enzymology | Neural Stem Cells - pathology | Oligodendroglia - pathology | Cell Lineage | Phenotype | Neurons - enzymology | Iduronate Sulfatase - genetics | Oligodendroglia - enzymology | Medical research | Enzymes | Genetic vectors | Neurons | Analysis | Stem cells | Medicine, Experimental | Mucopolysaccharidosis | Sulfates | Tubulins | Cell culture | Animal models | Media (culture) | Glycosaminoglycans | Central nervous system | Stem cell transplantation | Leukocytes | Neuronal-glial interactions | Respiratory tract | Airway management | Tubulin | Allografts | Gag protein | Oligodendrocytes | Rheumatic heart disease | Heart diseases | Astrocytes | Blood cells | Glial fibrillary acidic protein | Coronary artery disease | Hearing loss | Neurological complications | Pluripotency
Journal Article
Journal Article
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,... 
Heparan sulfate | LC/MS | Hyaluronan | Glycosaminoglycans | Dermatan sulfate | Keratan sulfate | Mucopolysaccharidoses | 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
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2012, Volume 107, Issue 3, pp. 513 - 520
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2007, Volume 90, Issue 3, pp. 329 - 337
To evaluate the safety and explore the efficacy of idursulfase (recombinant human iduronate-2-sulfatase) treatment for mucopolysaccharidosis II (MPS II).... 
Hunter syndrome | MPS II | Iduronate-2-sulfatase | Glycosaminoglycans | Enzyme replacement therapy | Idursulfase | Lysosomal storage disorder | Mucopolysaccharidosis II | glycosaminoglycans | idursulfase | MEDICINE, RESEARCH & EXPERIMENTAL | OBSTRUCTIVE SLEEP-APNEA | enzyme replacement therapy | 6-MINUTE WALK TEST | BONE-MARROW-TRANSPLANTATION | FABRY-DISEASE | N-ACETYLGALACTOSAMINE 4-SULFATASE | lysosomal storage disorder | DIMETHYLMETHYLENE BLUE | CHILDREN | iduronate-2-sulfatase | mucopolysaccharidosis II | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | TERM-FOLLOW-UP | SCREENING-PROCEDURE | Recombinant Proteins - therapeutic use | Liver - pathology | Humans | Male | Spleen - drug effects | Recombinant Proteins - adverse effects | Joints - physiopathology | Mucopolysaccharidosis II - pathology | Iduronate Sulfatase - immunology | Immunoglobulin G - biosynthesis | Liver - drug effects | Mucopolysaccharidosis II - physiopathology | Adult | Iduronate Sulfatase - administration & dosage | Safety | Spleen - pathology | Child | Glycosaminoglycans - urine | Double-Blind Method | Joints - drug effects | Recombinant Proteins - administration & dosage | Recombinant Proteins - immunology | Mucopolysaccharidosis II - drug therapy | Adolescent | Infusions, Intravenous | Respiratory Function Tests | Iduronate Sulfatase - therapeutic use | Iduronate Sulfatase - adverse effects | Clinical trials | Product development | Biopharmaceutics
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2018, Volume 125, Issue 1-2, pp. 53 - 58
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 72 - 72
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 12/2016, Volume 17, Issue 12, pp. 2004 - 2004
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2016, Volume 11, Issue 5, p. e0156452
Lysosomal Storage Disorders (LSDs) are a group of metabolic syndromes, each one due to the deficit of one lysosomal enzyme. Many LSDs affect most of the organ... 
HUNTER-SYNDROME | TRANSPORT | THERAPY | DISEASES | DRUG-DELIVERY | INFLAMMATION | CONVECTION | MULTIDISCIPLINARY SCIENCES | BARRIER | CENTRAL-NERVOUS-SYSTEM | MOUSE MODELS | Albumins - chemistry | Fluorescein-5-isothiocyanate - pharmacokinetics | Nanoparticles - chemistry | Polylactic Acid-Polyglycolic Acid Copolymer | Polyglycolic Acid - pharmacology | Drug Carriers - chemistry | Lactic Acid - pharmacokinetics | Mucopolysaccharidosis II - pathology | Fluorescein-5-isothiocyanate - chemistry | Mucopolysaccharidosis II - metabolism | Nanoparticles - therapeutic use | Mucopolysaccharidosis II - genetics | Lactic Acid - pharmacology | Disease Models, Animal | Mucopolysaccharidosis I - metabolism | Fluorescein-5-isothiocyanate - pharmacology | Lactic Acid - chemistry | Mucopolysaccharidosis I - pathology | Drug Carriers - pharmacology | Blood-Brain Barrier - metabolism | Mice, Knockout | Enzyme Replacement Therapy - methods | Albumins - pharmacokinetics | Albumins - pharmacology | Animals | Polyglycolic Acid - pharmacokinetics | Mucopolysaccharidosis II - drug therapy | Mucopolysaccharidosis I - drug therapy | Polyglycolic Acid - chemistry | Mucopolysaccharidosis I - genetics | Drug Carriers - pharmacokinetics | Mice | Metabolism, Inborn errors of | Nanoparticles | Enzymes | Blood-brain barrier | Analysis | Albumin | Research | Health aspects | Therapy | Pediatrics | Animal models | Drug delivery systems | Disease | Biodegradability | Central nervous system | Disorders | Lysosomal storage diseases | Nervous system | Mucopolysaccharidosis | Neurosurgery | Molecular weight | Polylactide-co-glycolide | Biomedical materials | Low molecular weights | Rodents | Biocompatibility | Life sciences | Biodegradation | Phenotypes | Brain research | Storage | Acids | Womens health | Neurological complications | Metabolic disorders | Apoptosis
Journal Article
Journal Article