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SCIENTIFIC REPORTS, ISSN 2045-2322, 07/2019, Volume 9, Issue 1, pp. 10755 - 9
Mucopolysaccharidosis (MPS) is caused by the deficiency of a specific hydrolytic enzyme that catalyzes the step-wise degradation of glycosaminoglycans (GAGs).... 
IMPACT | BIOMARKER | SULFATE | MULTIDISCIPLINARY SCIENCES | GROWTH | ALPHA | NATURAL-HISTORY | ENZYME REPLACEMENT THERAPY | IVA MORQUIO | Heparan sulfate | Urine | Creatinine | Enzymes | Glycosaminoglycans | Disaccharides | Keratan sulfate | Mass spectroscopy | Mucopolysaccharidosis | Scientific imaging | Chondroitin sulfate | Diagnosis | Mass spectrometry
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 06/2019, Volume 14, Issue 1, pp. 137 - 25
Journal Article
Gene Reports, ISSN 2452-0144, 12/2019, Volume 17, p. 100488
One of the rare inherited diseases is the mucopolysaccharidoses disorders (MPS) associated with accumulation of glycosaminoglycan in several organs, leading to... 
Pregnancy | Morquio syndrome | Mucopolysaccharidosis | Enzyme replacement therapy
Journal Article
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, ISSN 1422-0067, 09/2019, Volume 20, Issue 18, p. 4610
Morquio A syndrome, or mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disease due to mutations in the N-acetylgalactosamine-6-sulfatase... 
enzyme replacement therapy | proteomics | lysosomal disorders | BIOCHEMISTRY & MOLECULAR BIOLOGY | SWATH-MS | IDENTIFICATION | CHEMISTRY, MULTIDISCIPLINARY | DISCOVERY | BIOMARKERS | nanoparticles | ELOSULFASE ALPHA | DATA-INDEPENDENT ACQUISITION | ENRICHMENT | LYSOSOME | PROTEINS | MUCOPOLYSACCHARIDOSIS IVA MORQUIO
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2019, Volume 20, p. 100487
Mucopolysaccharidosis (MPS) type IVA is a rare, autosomal recessive lysosomal storage disease causing substrate accumulation in various organs and tissues. MPS... 
MPS | Morquio syndrome | Respiratory changes | Mucopolysaccharidosis IVA | Enzyme replacement therapy | Sleep disordered breathing | MORQUIO | SLEEP | BMN 110 | NATURAL-HISTORY | AIRWAY | ELOSULFASE ALPHA | PULSE OXIMETRY | DISEASE | GENETICS & HEREDITY
Journal Article
Gene, ISSN 0378-1119, 07/2019, Volume 704, pp. 59 - 67
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic mutations gene and characterized by progressive skeletal deformities... 
Phenotype | Height | Attenuated form | MPS-IVA | GALNS gene | MORQUIO | VARIANTS | GENOTYPE | GUIDELINES | IDENTIFICATION | N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE | GALNS | HETEROGENEITY | ENZYME | GENETICS & HEREDITY | Genetic research | Medicine, Experimental | Medical research | Mucopolysaccharidosis | Genetic aspects | Diagnosis
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2019, Volume 19, p. 100455
Journal Article
Clinical Pharmacokinetics, ISSN 0312-5963, 5/2019, Volume 58, Issue 5, pp. 673 - 683
Mucopolysaccharidosis type VII (MPS VII, Sly Syndrome) is a progressive, debilitating, ultra-rare lysosomal storage disorder caused by the deficiency of... 
Pharmacotherapy | Internal Medicine | Medicine & Public Health | Pharmacology/Toxicology | BLIND | MORQUIO | IMPACT | ELOSULFASE ALPHA | BETA-GLUCURONIDASE | LYSOSOMAL STORAGE | PHARMACOLOGY & PHARMACY | PHASE-3 | CLINICAL-COURSE | Original
Journal Article
BioDrugs, ISSN 1173-8804, 4/2019, Volume 33, Issue 2, pp. 233 - 240
Mucopolysaccharidosis VII is an extremely rare, autosomal recessive lysosomal storage disorder characterized by a deficiency of β-glucuronidase activity,... 
Antibodies | Pharmacotherapy | Cancer Research | Molecular Medicine | Biomedicine | ENZYME-REPLACEMENT THERAPY | MORQUIO | IMPACT | GENE | ONCOLOGY | BETA-GLUCURONIDASE | PHARMACOLOGY & PHARMACY | PHASE-3 | IMMUNOLOGY | Adis Drug Evaluation
Journal Article
GENETICS AND MOLECULAR BIOLOGY, ISSN 1415-4757, 2019, Volume 42, Issue 1, pp. 207 - 214
Journal Article
Revue du Rhumatisme monographies, ISSN 1878-6227, 04/2019, Volume 86, Issue 2, pp. 92 - 99
Journal Article