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Nature reviews. Neurology, ISSN 1759-4758, 10/2013, Volume 9, Issue 10, pp. 583 - 598
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuronal Ceroid-Lipofuscinoses - therapy | Lysosomal Storage Diseases - therapy | Humans | Lysosomal Storage Diseases - metabolism | Neuronal Ceroid-Lipofuscinoses - metabolism | Lysosomal Storage Diseases - etiology | Neuronal Ceroid-Lipofuscinoses - etiology | Metabolism, Inborn errors of | Care and treatment | Neuronal ceroid-lipofuscinosis | Research | Risk factors | Index Medicus
Journal Article
Nature reviews. Disease primers, ISSN 2056-676X, 12/2018, Volume 4, Issue 1, pp. 27 - 27
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Leukodystrophy, Metachromatic - genetics | Leukodystrophy, Metachromatic - epidemiology | Gaucher Disease - genetics | Fabry Disease - epidemiology | Glycogen Storage Disease Type II - genetics | Fabry Disease - genetics | Humans | Lysosomal Storage Diseases - epidemiology | Gaucher Disease - epidemiology | Lysosomal Storage Diseases - genetics | Glycogen Storage Disease Type II - epidemiology | Proteins - analysis | Enzymes | Neurodegeneration | Genetic disorders | Index Medicus
Journal Article
Trends in neurosciences (Regular ed.), ISSN 0166-2236, 2011, Volume 34, Issue 8, pp. 401 - 410
Neurology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Pharmacology. Drug treatments | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Biological and medical sciences | Anticonvulsants. Antiepileptics. Antiparkinson agents | Medical sciences | Neuropharmacology | Animals | Lysosomal Storage Diseases - therapy | Lysosomes - metabolism | Proteins - metabolism | Lysosomal Storage Diseases - physiopathology | Humans | Lysosomal Storage Diseases - genetics | Exocytosis | Protein Transport | Post-translational modification | Metabolism, Inborn errors of | Enzymes | Analysis | Physiological aspects | Cognition disorders | Membrane proteins | Proteins | Nervous system | Mutation | Metabolic disorders | Index Medicus
Journal Article
2004, ISBN 0198508786, xxvii. 447
Book
Nature (London), ISSN 0028-0836, 2014, Volume 510, Issue 7503, pp. 68 - 75
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Sphingolipids - biosynthesis | Lysosomal Storage Diseases - therapy | Glycosphingolipids - biosynthesis | Humans | Lysosomal Storage Diseases - genetics | Sphingolipids - metabolism | Biosynthetic Pathways | Lysosomal Storage Diseases - pathology | Animals | Lysosomes - metabolism | Lysosomal Storage Diseases - drug therapy | Cell Death | Glycosphingolipids - metabolism | Lysosomal Storage Diseases - metabolism | Parkinson Disease - metabolism | Metabolism, Inborn errors of | Medicine, Experimental | Medical research | Sphingolipids | Research | Properties | Enzymes | Pathogenesis | Parkinsons disease | Population | Biosynthesis | Mutation | Alzheimers disease | Metabolic disorders | Defects | Index Medicus
Journal Article
The Lancet (British edition), ISSN 0140-6736, 10/2008, Volume 372, Issue 9645, pp. 1263 - 1271
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Errors of metabolism | Biological and medical sciences | Metabolic diseases | General aspects | Medical sciences | Lipids (lysosomal enzyme disorders, storage diseases) | Genotype & phenotype | Databases | Disease | Industrialized nations | Alternative medicine | Population | Appointments & personnel changes | Gene therapy
Journal Article