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Journal Article
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 2016, Volume 118, Issue 4, pp. 304 - 309
...-I), Fabry, Gaucher, Niemann Pick-A/B, and Krabbe diseases. Enzyme activities (acid α-glucosidase (GAA), galactocerebrosidase... 
Pompe disease | Tandem mass spectrometry | Hurler disease | Gaucher disease | Lysosomal storage disorders | Krabbe disease | Niemann-Pick-A/B disease | Dried blood spot | Newborn screening | Fabry disease | MEDICINE, RESEARCH & EXPERIMENTAL | MUCOPOLYSACCHARIDOSIS-I | ASSAY | DISORDERS | CARDS | DRIED BLOOD SPOTS | RETROSPECTIVE DIAGNOSES | ENZYMES | FABRY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | FILTER-PAPER | ENZYMATIC DIAGNOSIS | Dried Blood Spot Testing | Glucosylceramidase - blood | Humans | Mucopolysaccharidosis I - physiopathology | Male | Gaucher Disease - blood | Neonatal Screening | Leukodystrophy, Globoid Cell - physiopathology | Tandem Mass Spectrometry | Fabry Disease - blood | Female | Gaucher Disease - physiopathology | Lysosomal Storage Diseases - blood | Galactosylceramidase - blood | Glycogen Storage Disease Type II - blood | Infant, Newborn | Lysosomal Storage Diseases - classification | Mucopolysaccharidosis I - blood | alpha-Glucosidases - blood | Niemann-Pick Diseases - blood | Lysosomal Storage Diseases - genetics | Enzyme Assays | Niemann-Pick Diseases - physiopathology | Lysosomal Storage Diseases - pathology | Glycogen Storage Disease Type II - physiopathology | alpha-Galactosidase - blood | Fabry Disease - physiopathology | Iduronidase - blood | Leukodystrophy, Globoid Cell - blood | Sphingomyelin Phosphodiesterase - blood | Medicine, Experimental | Medical research | Medical screening | Mass spectrometry | Niemann-Pick-A | B disease
Journal Article
PloS one, ISSN 1932-6203, 2010, Volume 5, Issue 2, p. e9313
Background: Lewy body disease is a heterogeneous group of neurodegenerative disorders characterized by alpha-synuclein accumulation that includes dementia with Lewy bodies (DLB... 
WILD-TYPE | CHAPERONE-MEDIATED AUTOPHAGY | ALZHEIMERS-DISEASE | MOUSE MODEL | FRONTOTEMPORAL DEMENTIA | BIOLOGY | AGGREGATE-PRONE PROTEINS | NEURONAL EXPRESSION | PARKINSONS-DISEASE | TRANSGENIC MICE | GAUCHER-DISEASE | Pyramidal Cells - metabolism | Humans | Nerve Degeneration - genetics | Male | Autophagy | Nerve Degeneration - metabolism | Alzheimer Disease - pathology | Brain - metabolism | Lewy Body Disease - genetics | RNA Interference | Brain - ultrastructure | Aged, 80 and over | Female | alpha-Synuclein - genetics | Pyramidal Cells - ultrastructure | Disease Models, Animal | Cell Line | Ubiquitin-Activating Enzymes - genetics | Signal Transduction | Lewy Body Disease - pathology | Mice, Transgenic | Microscopy, Electron | Ubiquitin-Activating Enzymes - metabolism | Blotting, Western | Nerve Degeneration - pathology | Lewy Body Disease - metabolism | Microscopy, Confocal | Autophagy-Related Protein 7 | Animals | Alzheimer Disease - metabolism | Brain - pathology | Cell Line, Tumor | Pyramidal Cells - pathology | Aged | Mice | Alzheimer Disease - genetics | alpha-Synuclein - metabolism | TOR protein | Neurosciences | Animal models | Parkinson's disease | Pathogenesis | Toxicity | Parkinsons disease | Phagosomes | Nervous system | Synuclein | Neuromodulation | Accumulation | Modulators | Proteins | Infusion | Alterations | Neurodegeneration | Dementia disorders | Alzheimer's disease | Movement disorders | Enzymes | Neurodegenerative diseases | Neurons | Immunomodulation | Lewy body disease | Transgenic mice | Rapamycin | Patients | Lewy bodies | Studies | Pathology | Mutation | Alzheimers disease | Phagocytosis | Apoptosis | Dementia
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