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Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2009, Volume 98, Issue 1, pp. 215 - 224
Journal Article
Current Pharmaceutical Biotechnology, ISSN 1389-2010, 11/2011, Volume 12, Issue 11, pp. 1860 - 1865
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 01/2018, Volume 13, Issue 1, pp. 24 - 6
Background: Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester... 
Lysosomal acid lipase deficiency | Ezetimibe | Substrate reduction therapy | TRIAL | MEDICINE, RESEARCH & EXPERIMENTAL | METABOLISM | FATTY LIVER-DISEASE | GENETICS & HEREDITY | ESTER STORAGE DISEASE | DYSLIPIDEMIA | PHASE-3 | Wolman disease | Usage | Care and treatment | Research | Statins
Journal Article
Journal of Inclusion Phenomena and Macrocyclic Chemistry, ISSN 1388-3127, 12/2018, Volume 92, Issue 3, pp. 369 - 379
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2008, Volume 94, Issue 2, pp. 204 - 211
GM1 gangliosidosis is an inherited neurodegenerative disorder caused by lysosomal β-galactosidase deficiency, resulting in the storage of GM1 and GA1,... 
N-Butyldeoxynojirimycin | Glycosphingolipid | Imino sugar | GA1 | N-Butyldeoxygalactonojirimycin | GM1 | Lysosomal storage disease | Miglustat | GM1 gangliosidosis | Substrate reduction therapy | STORAGE | MEDICINE, RESEARCH & EXPERIMENTAL | GLYCOLIPID BIOSYNTHESIS | imino sugar | lysosomal storage disease | GLUCOSYLCERAMIDE SYNTHASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | PREVENTION | glycosphingolipid | SANDHOFF-DISEASE MICE | N-butyldeoxynojirimycin | GENETICS & HEREDITY | BETA-GALACTOSIDASE | substrate reduction therapy | N-butyldeoxygalactonojirimycin | miglustat | ACCUMULATION | INHIBITOR | BUTYLDEOXYGALACTONOJIRIMYCIN | Gangliosidosis, GM1 - metabolism | Gangliosidosis, GM1 - physiopathology | Humans | Motor Activity - drug effects | Protein Transport - drug effects | Gangliosidosis, GM1 - immunology | Brain - metabolism | Enzyme Inhibitors - administration & dosage | 1-Deoxynojirimycin - therapeutic use | Glucosyltransferases - metabolism | beta-Galactosidase - metabolism | 1-Deoxynojirimycin - administration & dosage | 1-Deoxynojirimycin - analogs & derivatives | Disease Models, Animal | Glucosyltransferases - antagonists & inhibitors | beta-Galactosidase - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Gangliosidosis, GM1 - drug therapy | Mice, Knockout | Brain - drug effects | Animals | Feces - chemistry | Glycosphingolipids - antagonists & inhibitors | Glycosphingolipids - metabolism | Mice | beta-Galactosidase - genetics | Macrophage Activation - drug effects | Brain - immunology | Gangliosides | Analysis
Journal Article
Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences, ISSN 0962-8436, 05/2003, Volume 358, Issue 1433, pp. 961 - 966
Journal Article