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Human Molecular Genetics, ISSN 0964-6906, 1/2008, Volume 17, Issue 1, pp. 119 - 129
Journal Article
Pediatric Pulmonology, ISSN 8755-6863, 03/2014, Volume 49, Issue 3, pp. 277 - 284
Background The mucopolysaccharidoses (MPS) comprise a group of inherited lysosomal storage disorders characterized by deficiencies in enzymes catalyzing the... 
glycosaminoglycans | pulmonary function | enzyme replacement therapy | spirometry | mucopolysaccharidoses | MORTALITY | TAIWAN | LARONIDASE | EQUATIONS | CHINESE CHILDREN | HONG-KONG | REFERENCE VALUES | RESPIRATORY SYSTEM | PEDIATRICS | Spirometry | Age Factors | Mucopolysaccharidosis IV - complications | Humans | Mucopolysaccharidosis I - physiopathology | Mucopolysaccharidosis VI - complications | Male | Mucopolysaccharidosis III - drug therapy | Lung Diseases - etiology | Forced Expiratory Volume | Young Adult | Mucopolysaccharidosis II - physiopathology | Adult | Female | Mucopolysaccharidoses - complications | Mucopolysaccharidosis VI - drug therapy | Child | Mucopolysaccharidosis VI - physiopathology | Mucopolysaccharidoses - drug therapy | Severity of Illness Index | Mucopolysaccharidoses - physiopathology | Mucopolysaccharidosis III - physiopathology | Treatment Outcome | Lung - physiopathology | Mucopolysaccharidosis IV - drug therapy | Disease Progression | Mucopolysaccharidosis I - complications | Lung Diseases, Obstructive - physiopathology | Mucopolysaccharidosis III - complications | Enzyme Replacement Therapy - methods | Mucopolysaccharidosis II - complications | Mucopolysaccharidosis IV - physiopathology | Mucopolysaccharidosis II - drug therapy | Mucopolysaccharidosis I - drug therapy | Vital Capacity - physiology | Adolescent | Lung Diseases, Obstructive - etiology | Lung Diseases - physiopathology | Respiratory Function Tests | Peak Expiratory Flow Rate | Maximal Midexpiratory Flow Rate | Enzymes | Respiratory tract diseases | Care and treatment | Mucopolysaccharidosis | Glycosaminoglycans | Chemical properties
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2017, Volume 121, Issue 2, pp. 70 - 79
Journal Article
Journal of Neuroscience Research, ISSN 0360-4012, 03/2009, Volume 87, Issue 4, pp. 978 - 990
Journal Article
Journal of Clinical and Experimental Neuropsychology, ISSN 1380-3395, 07/2013, Volume 35, Issue 6, pp. 608 - 616
Journal Article
European Journal of Neuroscience, ISSN 0953-816X, 06/2014, Volume 39, Issue 12, pp. 2139 - 2150
Journal Article
Journal of Bone and Mineral Metabolism, ISSN 0914-8779, 05/2017, Volume 35, Issue 3, pp. 338 - 343
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 09/2011, Volume 20, Issue 18, pp. 3653 - 3666
By providing access to affected neurons, human induced pluripotent stem cells (iPSc) offer a unique opportunity to model human neurodegenerative diseases. We... 
MANNOSE 6-PHOSPHATE | DEFINED FACTORS | HUMAN-FIBROBLASTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | SYNDROME TYPE-B | STORAGE DISORDERS | GOLGI-APPARATUS | MUCOPOLYSACCHARIDOSIS IIIB | HEPARAN-SULFATE PROTEOGLYCANS | ALPHA-N-ACETYLGLUCOSAMINIDASE | Fibroblasts - enzymology | Cell Proliferation | Humans | Child, Preschool | Lysosomes - enzymology | Male | Neurons - cytology | Acetylglucosaminidase - genetics | Lysosomes - metabolism | Acetylglucosaminidase - metabolism | Mucopolysaccharidosis III - metabolism | Female | Cell Differentiation | Neurons - metabolism | Induced Pluripotent Stem Cells - cytology | Child | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Mucopolysaccharidosis III - physiopathology | Induced Pluripotent Stem Cells - enzymology | Mucopolysaccharidosis III - genetics | Cells, Cultured | Mucopolysaccharidosis III - enzymology | Heparan Sulfate Proteoglycans - metabolism | Models, Biological | Neurons - enzymology | Fibroblasts - cytology | Mutation | Heparan sulfate | Enzymes | Fibroblast growth factor | lysosomal storage diseases | Proteoglycans | Neurodegenerative diseases | Axonogenesis | Neurons | Central nervous system | Mucopolysaccharidosis | Gene expression | Golgi apparatus | alpha -N- double prime Acetylglucosaminidase | Stem cells | Fibroblasts | Children | Cell migration | Golgi cells | Inhibitory postsynaptic potentials
Journal Article