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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 and Cellular Biochemistry, ISSN 0300-8177, 08/2010, Volume 341, Issue 1-2, p. 51
Human acid [alpha]-glucosidase (GAA, EC 3.2.1.20) is a lysosomal enzyme that belongs to the glycoside hydrolase family 31 (GH31) and catalyses the hydrolysis... 
Hydrolysis | Glucose metabolism | Caenorhabditis elegans | Amylases | RNA | Glycogen | Analysis | Genomics | Proteins | Enzymes | Nematodes | Phylogenetics | Biochemistry | Bioinformatics | Metabolic disorders
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2009, Volume 149A, Issue 4, pp. 613 - 621
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2017, Volume 105, pp. 257 - 270
Abstract Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death.... 
Neurology | small molecule therapy | mucolipidosis type IV | lysosomal storage disease | Purkinje cells | glycosphingolipids | miglustat | mucolipin-1
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S29 - S29
Journal Article
Molecular and Cellular Biochemistry, ISSN 0300-8177, 08/2010, Volume 341, Issue 1-2, pp. 51 - 63
Human acid a-glucosidase (GAA, EC 3.2.1.20) is a lysosomal enzyme that belongs to the glycoside hydrolase family 31 (GH31) and catalyses the hydrolysis of... 
Journal Article
Virchows Archiv, ISSN 0945-6317, 06/2008, Volume 452, Issue 6, p. 651
The function and intracellular delivery of enzyme therapeutics for Fabry disease were studied in cultured fibroblasts and in the biopsied tissues of two male... 
Comparative analysis | Enzymes
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 09/2017, Volume 105, pp. 257 - 270
Journal Article