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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 | Medical centres | Life span | Hearing aids | Mastoiditis | Ototoxicity
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 | Niemann-Pick-A | B disease
Journal Article
Gut, ISSN 0017-5749, 06/2017, Volume 66, Issue 6, pp. 1060 - 1073
ObjectivePatients with Niemann–Pick disease type C1 (NPC1), a lysosomal lipid storage disorder that causes neurodegeneration and liver damage, can present with... 
IBD-GENETICS | IBD CLINICAL | IMMUNODEFICIENCY | IBD BASIC RESEARCH | Crohn'S DISEASE | MIGLUSTAT THERAPY | PATHOGENESIS | APOPTOSIS | DENDRITIC CELLS | MACROPHAGES | SUSCEPTIBILITY | ILEAL MUCOSA | PHAGOSOME PROTEOME | GASTROENTEROLOGY & HEPATOLOGY | BOWEL-DISEASE | INNATE IMMUNITY | Tumor Necrosis Factor-alpha - metabolism | Crohn Disease - genetics | X-Linked Inhibitor of Apoptosis Protein - deficiency | Humans | Child, Preschool | Lysosomes | Male | Nod2 Signaling Adaptor Protein - genetics | Leukocytes, Mononuclear | Pyridazines - pharmacology | Niemann-Pick Disease, Type C - physiopathology | Autophagy - drug effects | Crohn Disease - complications | Receptor-Interacting Protein Serine-Threonine Kinase 2 - metabolism | Young Adult | Gentamicins - pharmacology | Adult | Bacteria | Female | Genetic Diseases, X-Linked - genetics | Autophagy - genetics | Child | Receptor-Interacting Protein Serine-Threonine Kinase 2 - antagonists & inhibitors | Macrophages - physiology | Granuloma - genetics | Cells, Cultured | Chlorpromazine - pharmacology | Imidazoles - pharmacology | Acetylmuramyl-Alanyl-Isoglutamine - metabolism | X-Linked Inhibitor of Apoptosis Protein - genetics | Acetylmuramyl-Alanyl-Isoglutamine - pharmacology | Granuloma - pathology | Nod2 Signaling Adaptor Protein - metabolism | Crohn Disease - pathology | Dopamine Antagonists - pharmacology | Adolescent | X-Linked Inhibitor of Apoptosis Protein - metabolism | Macrophages - drug effects | Anti-Bacterial Agents - pharmacology | Protein Kinase Inhibitors - pharmacology | Mutation | Niemann-Pick Disease, Type C - complications | Niemann-Pick Disease, Type C - genetics | Autophagy (Cytology) | Inflammatory bowel diseases | Gastrointestinal diseases | Causes of | Colorectal diseases | Crohn's disease | Research | Niemann-Pick disease | Salmonella | Granuloma | Muramyl dipeptide | Liver | XIAP protein | Kinases | Macrophages | Autophagy | Defects | Genotype & phenotype | Cell activation | Intestine | Neurodegeneration | Npc1 protein | Age | NOD2 protein | Oligomerization | Dendritic cells | Cytokines | Blood & organ donations | Inflammation | Patients | Crohns disease | Studies | Inflammatory bowel disease | Monocytes | Proteomics | Colitis | Adapter proteins | Phagocytosis | Apoptosis | IBD - GENETICS | CROHN'S DISEASE | Inflammatory Bowel Disease | 1506
Journal Article
Lancet, The, ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Journal Article
2009, ISBN 0195335376, xiii, 381
Book
Advances in Experimental Medicine and Biology, ISSN 0065-2598, 10/2016, Volume 949, pp. 227 - 243
Astrocytes play crucial roles in maintaining brain homeostasis and in orchestrating neural development, all through tightly coordinated steps that cooperate to... 
Myelin damage | Astrocyte dysfunction | Astrocytes | Neurodegeneration | Neurodevelopmental diseases | MEDICINE, RESEARCH & EXPERIMENTAL | GLUTARIC-ACIDURIA | AMYOTROPHIC-LATERAL-SCLEROSIS | MODEL | BLOOD-BRAIN-BARRIER | NEUROSCIENCES | CELL BIOLOGY | PERIVASCULAR ASTROCYTES | PYRUVATE-CARBOXYLASE DEFICIENCY | NEURONS | WHITE-MATTER DISEASE | ACIDURIA TYPE-I | ACIDEMIA TYPE-I | Niemann-Pick Disease, Type C - therapy | Humans | Astrocytes - pathology | Niemann-Pick Disease, Type C - pathology | Niemann-Pick Disease, Type C - metabolism | Brain - metabolism | Pyruvate Carboxylase Deficiency Disease - diagnosis | Brain Diseases, Metabolic - diagnosis | Amino Acid Metabolism, Inborn Errors - pathology | Diet - methods | Neurodegenerative Diseases - pathology | Iron Metabolism Disorders - diagnosis | Alexander Disease - metabolism | Neurodegenerative Diseases - therapy | Brain - drug effects | Hepatic Encephalopathy - pathology | Brain - pathology | Ceruloplasmin - metabolism | Iron Metabolism Disorders - metabolism | Disease Management | Alexander Disease - diagnosis | Astrocytes - metabolism | Glutaryl-CoA Dehydrogenase - deficiency | Brain Diseases, Metabolic - pathology | Glutaryl-CoA Dehydrogenase - metabolism | Ceruloplasmin - deficiency | Hepatic Encephalopathy - metabolism | Pyruvate Carboxylase Deficiency Disease - metabolism | Pyruvate Carboxylase Deficiency Disease - pathology | Homeostasis | Neurodegenerative Diseases - diagnosis | Amino Acid Metabolism, Inborn Errors - diagnosis | Brain Diseases, Metabolic - therapy | Amino Acid Metabolism, Inborn Errors - metabolism | Hepatic Encephalopathy - diagnosis | Neurogenesis - drug effects | Niemann-Pick Disease, Type C - diagnosis | Glutamate-Ammonia Ligase - metabolism | Astrocytes - drug effects | Glutamate-Ammonia Ligase - deficiency | Pyruvate Carboxylase Deficiency Disease - therapy | Neurodegenerative Diseases - metabolism | Brain Diseases, Metabolic - metabolism | Amino Acid Metabolism, Inborn Errors - therapy | Alexander Disease - pathology | Antioxidants - therapeutic use | Hepatic Encephalopathy - therapy | Iron Metabolism Disorders - therapy | Alexander Disease - therapy | Sorption Detoxification | Glucose - therapeutic use | Iron Metabolism Disorders - pathology
Journal Article
2011, ISBN 9781444328387, ix, 142
Jean Schoenen, MD, PhD, Department of Neurology, Liège University, Liège, Belgium David W. Dodick, MD, Department of Neurology, Mayo Clinic, Scottsdale, AZ,... 
epidemiology | Comorbidity | Migraine Disorders | Migraine
Book
Journal Article
Molecular and Cellular Neuroscience, ISSN 1044-7431, 2010, Volume 43, Issue 1, pp. 33 - 42
Journal Article