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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
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2016, Volume 118, Issue 4, pp. 304 - 309
There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an... 
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 | Index Medicus | Niemann-Pick-A | B disease
Journal Article
1997, 1st ed., ISBN 0412549107, xvii, 454
Book
Lancet, The, ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Journal Article
2010, Plant pathology in the 21st century, ISBN 9781402089299, Volume 2., ix, 211
As a collection of papers that includes material presented at the 2008 International Congress for Plant Pathology, this text features research right at the... 
Maladies et dommages après récolte | Cultures | Postharvest diseases and injuries
Book
2015, First edition., Methods in Cell Biology, ISBN 9780128002933, Volume 126
Web Resource
2015, First edition., Methods in cell biology, ISBN 9780128000793, Volume 126
Web Resource
The Lancet, ISSN 0140-6736, 10/2017, Volume 390, Issue 10104, pp. 1758 - 1768
Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing,... 
MIGLUSTAT THERAPY | STORAGE | MEDICINE, GENERAL & INTERNAL | HEPATOCELLULAR-CARCINOMA | CHOLESTEROL | BIOMARKER | CYCLODEXTRIN | CALBINDIN-D | PATIENT | BRAIN | CHILDREN | Injections, Spinal | Niemann-Pick Disease, Type C - drug therapy | 2-Hydroxypropyl-beta-cyclodextrin - adverse effects | Humans | Rare Diseases - drug therapy | Hearing Loss, High-Frequency - chemically induced | Child, Preschool | Niemann-Pick Disease, Type C - cerebrospinal fluid | Fatty Acid Binding Protein 3 - cerebrospinal fluid | Male | Biomarkers - blood | Hydroxycholesterols - cerebrospinal fluid | 2-Hydroxypropyl-beta-cyclodextrin - administration & dosage | Disease Progression | Dose-Response Relationship, Drug | Young Adult | Adolescent | Calbindins - cerebrospinal fluid | Female | Hydroxycholesterols - blood | Biomarkers - cerebrospinal fluid | Niemann-Pick Disease, Type C - blood | Child | Niemann-Pick disease | Medical research | Genetic disorders | Research & development--R&D | Clinical trials | Patients | Cholesterol | Studies | Cyclodextrin | Neurodegeneration | Biomarkers | Drug therapy | Drug dosages | Cerebellum | Slopes | Regulatory agencies | Animal models | Medical services | Childrens health | Hepatocellular carcinoma | Cognition | Cyclodextrins | Cerebrospinal fluid | Dosage | Proteins | Randomization | Npc1 protein | Bioindicators | Safety | Age | Health | FDA approval | Hearing loss | Domains | Hearing | Medical centres | Life span | Hearing aids | Mastoiditis | Ototoxicity | Index Medicus | Abridged Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2015, Volume 10, Issue 5, pp. e0125204 - e0125204
Objective Variants in GBA are associated with Lewy Body (LB) pathology. We investigated whether variants in other lysosomal storage disorder (LSD) genes also... 
BETA-GLUCOSIDASE-2 | DEMENTIA | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | ALPHA-SYNUCLEIN | PATHOLOGY | IDENTIFICATION | GLUCOCEREBROSIDASE MUTATIONS | BRAIN | SPORADIC PARKINSONS-DISEASE | GAUCHER-DISEASE | Glucosylceramidase - genetics | Demography | Lysosomal Storage Diseases - enzymology | Humans | Lewy Body Disease - complications | Lewy Body Disease - enzymology | Male | Genetic Variation | Lewy Body Disease - genetics | Ethnic Groups - genetics | Nervous System - pathology | Autopsy | Lipids - blood | Aged, 80 and over | Female | Lysosomal Storage Diseases - complications | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease | Reproducibility of Results | Lysosomal Storage Diseases - genetics | Mutation - genetics | Sequence Analysis, DNA | Brain - pathology | Heterozygote | Aged | Genetic research | Ceramides | Lipids | Alzheimer's disease | Analysis | Genes | Brain | Pediatrics | Parkinson's disease | Pathogenesis | Lysergic acid diethylamide | Parkinsons disease | Association analysis | Biology | Genomes | Lysergide | Sphingolipids | Epidemiology | Gene sequencing | Genetic analysis | Aging | Genetics | Bioindicators | Movement disorders | Public health | Autopsies | Biochemical analysis | Neurodegenerative diseases | Lewy body disease | Disease control | Lewy bodies | Carriers | Medicine | Pathology | Neurology | Brain research | Storage | Biomarkers | Mutation | Alzheimers disease | Index Medicus
Journal Article
BBA - Biomembranes, ISSN 0005-2736, 2006, Volume 1758, Issue 12, pp. 2057 - 2079
Journal Article