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American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2014, Volume 164, Issue 8, pp. 1953 - 1964
Mucopolysaccharidosis VI(MPS VI) is a clinically heterogeneous and progressive disorder with multiorgan manifestations caused by deficient... 
multicenter study [publication type] | Maroteaux–Lamy syndrome | enzyme replacement therapy | respiratory function tests | mucopolysaccharidosis VI | survival rate | exercise tolerance | follow‐up studies | acetylgalactosamine‐4‐sulfatase | N | Enzyme replacement therapy | Mucopolysaccharidosis VI | Exercise tolerance | Maroteaux-Lamy syndrome | N-acetylgalactosamine-4-sulfatase | Multicenter study [publication type] | Survival rate | Follow-up studies | Respiratory function tests | QUALITY | ENDURANCE | 6-MINUTE WALK TEST | INVOLVEMENT | DISORDERS | CHILDREN | ENZYME-REPLACEMENT THERAPY | follow-up studies | GENETICS & HEREDITY | EXPERIENCE | DISEASE PROGRESSION | AGE | N-Acetylgalactosamine-4-Sulfatase - therapeutic use | Recombinant Proteins - therapeutic use | Enzyme Replacement Therapy | Cross-Sectional Studies | Follow-Up Studies | Mucopolysaccharidosis VI - urine | Humans | Child, Preschool | Male | N-Acetylgalactosamine-4-Sulfatase - urine | Young Adult | Exercise Test | Mucopolysaccharidosis VI - mortality | Recombinant Proteins - urine | Adolescent | Quality of Life | Female | Mucopolysaccharidosis VI - drug therapy | Respiratory Function Tests | Child | Heart Function Tests | Body Weights and Measures | Surveys | Heart | Enzymes | Medical research | Glycosaminoglycans | Mortality | Medicine, Experimental | Development and progression | Mucopolysaccharidosis | Drug therapy | Age | Index Medicus | N-Acetylgalactosamine-4-Sulfatase | Exercise Tolerance | Multicenter Study [Publication Type] | MeSH | Survival Rate
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2019, Volume 96, Issue 4, pp. 281 - 289
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder resulting from pathogenic variants in the α‐L‐iduronidase ( IDUA ) gene. Clinical... 
hurler syndrome | lysosomal storage disease | iduronidase | mucopolysaccharidosis | genotype‐phenotype | Scheie syndrome | metabolic disease | lysosome | Mucopolysaccharidosis | Genetic aspects | Analysis | Genes | Genotype & phenotype | Phenotypes | Alleles | Medical screening | Genotypes | Hereditary diseases | Index Medicus
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2009, Volume 98, Issue 4, pp. 383 - 392
Journal Article
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2018, Volume 41, Issue 4, pp. 669 - 677
Journal Article
Journal Article
Metabolic Brain Disease, ISSN 0885-7490, 10/2017, Volume 32, Issue 5, pp. 1403 - 1415
The monogenic defects in specific lysosomal enzymes in mucopolysaccharidosis (MPS) III lead to lysosomal storage of glycosaminoglycans and complex CNS and... 
Lysosomal storage diseases | Global metabolomics profiling | Metabolic impairments | MPS iii | Mass spectrometry | LYSOSOMAL STORAGE DISEASE | SANFILIPPO-SYNDROME | SYNDROME TYPE-B | HEMATOPOIETIC STEM-CELL | NEUROSCIENCES | DELIVERY | GENE-THERAPY CORRECTS | MOUSE MODEL | ENDOCRINOLOGY & METABOLISM | NEURONS | MUCOPOLYSACCHARIDOSIS IIIB | BRAIN | Amino Acids - blood | Oxidative Stress | Glycosaminoglycans - metabolism | Humans | Neurotransmitter Agents - metabolism | Child, Preschool | Male | Metabolic Diseases - diagnosis | Metabolomics - methods | Mucopolysaccharidosis III - diagnosis | Metabolic Networks and Pathways - genetics | Lysosomes - metabolism | Metabolic Diseases - metabolism | Mass Spectrometry | Mucopolysaccharidosis III - metabolism | Biomarkers | Female | Lipid Metabolism - genetics | Child | Aging - metabolism | Medical research | Enzymes | Medical colleges | Cysteine | Care and treatment | Glycosaminoglycans | Peptides | Depression, Mental | Development and progression | Fibrin | Metabolites | Analysis | Fibrinogen | Physiological aspects | Medicine, Experimental | Xenobiotics | Neuroprotection | Metabolomics | Oxidative stress | Profiling | Central nervous system | Amino acids | Mucopolysaccharidosis | Mental depression | Pathways | Lysosomal enzymes | Bioindicators | Age | Carbohydrates | Data processing | Mass spectroscopy | Metabolism | Patients | Vitamins | Storage | Disturbances | Metabolic pathways | Metabolic disorders | Index Medicus
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 06/2019, Volume 14, Issue 1, pp. 137 - 137
Journal Article