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2004, ISBN 0198508786, xxvii. 447
Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they... 
Brain | Lysosomal storage diseases | Treatment | Metabolism | Disorders | neuroscience | Lysosomal storage disorders - Treatment
Book
Human Molecular Genetics, ISSN 0964-6906, 2/2008, Volume 17, Issue 4, pp. 469 - 477
It is estimated that more than 40 different lysosomal storage disorders (LSDs) cumulatively affect one in 5000 live births, and in the majority of the LSDs,... 
ACTIVATION | UNFOLDED PROTEIN RESPONSE | NEURONAL CEROID-LIPOFUSCINOSES | THIOESTERASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISEASE | GENETICS & HEREDITY | LEADS | ENDOPLASMIC-RETICULUM STRESS | INCL | BRAIN | Gangliosidosis, GM1 - metabolism | Superoxide Dismutase - genetics | Apoptosis - drug effects | Humans | Endoplasmic Reticulum - metabolism | RNA, Messenger - metabolism | Lysosomal Storage Diseases, Nervous System - pathology | Neuronal Ceroid-Lipofuscinoses - pathology | Calnexin - genetics | Mitochondrial Proton-Translocating ATPases - genetics | Taurochenodeoxycholic Acid - pharmacology | Heat-Shock Proteins - genetics | Gangliosidosis, GM1 - genetics | Lysosomes - metabolism | Neuronal Ceroid-Lipofuscinoses - genetics | Lysosomal Storage Diseases - drug therapy | Endoplasmic Reticulum - drug effects | Glutaredoxins - genetics | Nuclear Proteins - genetics | Methylamines - pharmacology | Lysosomal Storage Diseases, Nervous System - drug therapy | Neuronal Ceroid-Lipofuscinoses - drug therapy | Catalase - genetics | RNA, Messenger - genetics | Cells, Cultured | Molecular Chaperones - genetics | Oxidative Stress - genetics | Lysosomal Storage Diseases - genetics | Neuronal Ceroid-Lipofuscinoses - metabolism | Gangliosidosis, GM1 - pathology | Lysosomal Storage Diseases, Nervous System - metabolism | Genetic Markers | DNA-Binding Proteins - genetics | Lysosomal Storage Diseases, Nervous System - genetics | Regulatory Factor X Transcription Factors | Lysosomal Storage Diseases - pathology | Protein Folding | Lysosomal Storage Diseases - metabolism | Transcription Factors | Apoptosis - physiology
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 1/2008, Volume 17, Issue 1, pp. 119 - 129
Journal Article
Molecular Therapy, ISSN 1525-0016, 05/2017, Volume 25, Issue 5, pp. 1155 - 1162
Lysosomal storage disorders (LSDs) are a broad class of monogenic diseases with an overall incidence of 1:7,000 newborns, due to the defective activity of one... 
gene therapy | lysosomal enzymes | storage diseases | hematopoietic stem cells | lentiviral vectors | central nervous system | MEDICINE, RESEARCH & EXPERIMENTAL | HURLER-SYNDROME | BONE-MARROW-TRANSPLANTATION | METACHROMATIC LEUKODYSTROPHY | MUCOPOLYSACCHARIDOSIS TYPE-II | X-LINKED ADRENOLEUKODYSTROPHY | BLOOD-BRAIN-BARRIER | ENZYME-REPLACEMENT-THERAPY | LYSOSOMAL-ENZYME | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | A-DEFICIENT MICE | Hydrolases - genetics | Lysosomal Storage Diseases - enzymology | Humans | Brain Damage, Chronic - therapy | Brain Damage, Chronic - enzymology | Brain Damage, Chronic - genetics | Transplantation, Homologous | Lentivirus - metabolism | Lysosomes - metabolism | Lentivirus - genetics | Brain Damage, Chronic - pathology | Disease Models, Animal | Gene Expression | Lysosomal Storage Diseases - therapy | Genetic Vectors - chemistry | Genetic Vectors - metabolism | Hematopoietic Stem Cell Transplantation | Lysosomal Storage Diseases - genetics | Hematopoietic Stem Cells - metabolism | Hydrolases - deficiency | Lysosomal Storage Diseases - pathology | Enzyme Replacement Therapy - methods | Animals | Hematopoietic Stem Cells - cytology | Genetic Therapy - methods | Neonates | Brain | Enzymes | Disease | Clinical trials | Lysosomes | Lysosomal storage diseases | Lysergide | Medical screening | Patients | Hematopoietic stem cells | Hemopoiesis | Defects | Storage diseases | Proteins | Genotype & phenotype | Medical prognosis | Stem cells | Fibroblasts | Mutation | Gene therapy | Brain injury | Review
Journal Article
Clinical Chemistry, ISSN 0009-9147, 06/2017, Volume 63, Issue 6, pp. 1118 - 1126
Journal Article
2007, ISBN 9780387709093, xix, 562
This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. This is an invaluable resource... 
Lysosomal storage diseases | Biology, life sciences | Metabolism, Inborn errors of | Human Genetics | Biochemistry, general | Biomedicine | Epidemiology | Cell Biology
Book
Journal Article