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Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2014, Volume 111, Issue 2, pp. 63 - 72
The mucopolysaccharidoses (MPS), a group of rare genetic disorders caused by defects in glycosaminoglycan (GAG) catabolism, are progressive, multi-systemic... 
Pre-symptomatic | Mucopolysaccharidosis | Laronidase | Enzyme replacement therapy | Galsulfase | Idursulfase | MEDICINE, RESEARCH & EXPERIMENTAL | HURLER-SYNDROME | JOINT DISEASE | FOLLOW-UP | N-ACETYLGALACTOSAMINE 4-SULFATASE | LYSOSOMAL STORAGE DISORDERS | MPS-I | HUNTER OUTCOME SURVEY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | L-IDURONIDASE LARONIDASE | HEPARAN-SULFATE | STEM-CELL TRANSPLANTATION | N-Acetylgalactosamine-4-Sulfatase - therapeutic use | Recombinant Proteins - therapeutic use | Humans | Child, Preschool | Secondary Prevention | Dysostoses - physiopathology | Joints - physiopathology | Respiratory System - enzymology | Heart Valves - drug effects | Mucopolysaccharidoses - complications | Mucopolysaccharidoses - drug therapy | Enzyme Replacement Therapy | Heart Valves - enzymology | Dysostoses - enzymology | Joints - enzymology | Mucopolysaccharidoses - physiopathology | Glycosaminoglycans - metabolism | Joints - drug effects | Mucopolysaccharidoses - enzymology | Dysostoses - complications | Clinical Trials as Topic | Dysostoses - drug therapy | Respiratory System - drug effects | Respiratory System - physiopathology | Iduronate Sulfatase - therapeutic use | Heart Valves - physiopathology | Enzymes | Care and treatment | Glycosaminoglycans | Physiological aspects | Health aspects | Biopharmaceutics
Journal Article
11/2013
Mucopolysaccharidoses result from genetic mutations in lysosomal enzymes required for degradation of glycosaminoglycans. The deficiency in any of eight... 
0369 | NDST1 | Mucopolysaccharidoses
Dissertation
Journal of Molecular Medicine, ISSN 0946-2716, 10/2017, Volume 95, Issue 10, pp. 1043 - 1052
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2015, Volume 114, Issue 2, pp. 94 - 109
Journal Article
PloS one, ISSN 1932-6203, 2018, Volume 13, Issue 9, p. e0203216
Introduction Mucopolysaccharide diseases are a group of lysosomal storage disorders caused by deficiencies of hydrolase enzymes, leading to pathological... 
HURLER-SYNDROME | MANAGEMENT | COLLAGEN | LARONIDASE | MULTIDISCIPLINARY SCIENCES | PROTEOGLYCAN DEPOSITION | ENDOTHELIAL-CELLS | HEMATOPOIETIC STEM-CELL | BACTERIAL SUPERINFECTION | HEPARAN-SULFATE | ALPHA-L-IDURONIDASE | Tumor Necrosis Factor-alpha - metabolism | Adenoids - pathology | Mucopolysaccharidoses - metabolism | Humans | Tumor Necrosis Factor-alpha - genetics | Child, Preschool | Extracellular Matrix - metabolism | Infant | Interleukin-1alpha - metabolism | Male | Mucopolysaccharidosis III - drug therapy | Mucopolysaccharidoses - pathology | Palatine Tonsil - metabolism | Inflammation Mediators - metabolism | Female | Interleukin-1alpha - genetics | Mucopolysaccharidosis VI - drug therapy | Child | Interleukin-6 - metabolism | Mucopolysaccharidoses - drug therapy | Interleukin-6 - genetics | Adenoids - metabolism | Mucopolysaccharidosis IV - drug therapy | Enzyme Replacement Therapy - methods | Palatine Tonsil - pathology | Mucopolysaccharidosis I - drug therapy | Immunohistochemistry | Enzymes | Usage | Care and treatment | Mucopolysaccharidosis | Genetic aspects | Health aspects | Therapy | Glycosaminoglycans | Disease | Otolaryngology | Lysosomal storage diseases | Biology | Remodeling | Accumulation | Interleukin 6 | Genotype & phenotype | Airway management | Alterations | Laminin | Extracellular matrix | Respiratory tract diseases | Collagen (type IV) | Heparan sulfate | Phenotypes | Biochemical analysis | Cytokines | Hydrolase | Inflammation | Tumor necrosis factor-α | Metabolism | Patients | Substrates | Medicine | Sleep | Hospitals | Collagen | Stem cells | Sampling methods | Respiratory tract
Journal Article