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Neuropathology and Applied Neurobiology, ISSN 0305-1846, 10/2002, Volume 28, Issue 5, pp. 343 - 357
Paediatric neurodegenerative diseases are frequently caused by inborn errors in glycosphingolipid (GSL) catabolism and are collectively termed the... 
gangliosides | pathogenesis | substrate reduction therapy | Lysosomal storage disease | glycosphingolipid biosynthesis inhibitors | Glycosphingolipid biosynthesis inhibitors | Pathogenesis | Gangliosides | Substrate reduction therapy | lysosomal storage disease | GLUCOSYLCERAMIDE SYNTHASE | FABRY-DISEASE | PATHOLOGY | SANDHOFF-DISEASE | NEUROSCIENCES | N-BUTYLDEOXYNOJIRIMYCIN | MOUSE MODELS | CLINICAL NEUROLOGY | GAUCHER-DISEASE | ENZYME-REPLACEMENT THERAPY | BONE-MARROW TRANSPLANTATION | TAY-SACHS-DISEASE | ALPHA-GALACTOSIDASE | Sandhoff Disease - pathology | Models, Chemical | Tay-Sachs Disease - therapy | Humans | Sandhoff Disease - metabolism | G(M2) Ganglioside - metabolism | Glucosyltransferases - metabolism | Lysosomes - metabolism | Gangliosides - metabolism | Sandhoff Disease - therapy | Bone Marrow Transplantation | 1-Deoxynojirimycin - administration & dosage | 1-Deoxynojirimycin - analogs & derivatives | Chemotherapy, Adjuvant | Disease Models, Animal | Glucosyltransferases - antagonists & inhibitors | Lysosomal Storage Diseases - therapy | Morpholines - administration & dosage | Treatment Outcome | Lysosomal Storage Diseases - pathology | Animals | Models, Biological | Tay-Sachs Disease - metabolism | Glycosphingolipids - metabolism | Lysosomal Storage Diseases - metabolism | Tay-Sachs Disease - pathology | Mice | Lysosomal Storage Diseases - etiology | Glucosylceramides - metabolism | Sandhoff Disease - etiology | Tay-Sachs Disease - etiology
Journal Article
Blood, ISSN 0006-4971, 10/2015, Volume 126, Issue 15, pp. 1777 - 1784
Journal Article
Lancet, The, ISSN 0140-6736, 2008, Volume 372, Issue 9647, pp. 1427 - 1435
Summary Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the GLA gene, which leads to a deficiency in α-galactosidase A.... 
Internal Medicine | alpha-Galactosidase - genetics | alpha-Galactosidase - therapeutic use | Fabry Disease - epidemiology | Humans | Sex Factors | Fabry Disease - physiopathology | Female | Male | alpha-Galactosidase - metabolism | Fabry Disease - therapy | Fabry Disease - diagnosis | Care and treatment | Genetic aspects | Diagnosis | Fabry's disease | Risk factors
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2006, Volume 8, Issue 9, pp. 539 - 548
Journal Article
Kidney International, ISSN 0085-2538, 09/2016, Volume 91, Issue 2, pp. 284 - 293
Journal Article
Journal of the American Society of Nephrology, ISSN 1046-6673, 01/2016, Volume 27, Issue 1, pp. 256 - 264
Journal Article