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Pediatrics, ISSN 0031-4005, 01/2009, Volume 123, Issue 1, pp. 19 - 29
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 72 - 72
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 | Index Medicus | Abridged Index Medicus | IBD - GENETICS | CROHN'S DISEASE | Inflammatory Bowel Disease | 1506
Journal Article
Therapeutics and Clinical Risk Management, ISSN 1176-6336, 2009, Volume 5, Issue 1, pp. 877 - 887
Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The... 
Miglustat | Niemann-Pick disease type C | NP-C | Zavesca | Pediatrics | miglustat
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 07/2013, Volume 109, Issue 3, pp. 315 - 316
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2009, Volume 98, Issue 1, pp. 152 - 165
Journal Article
Therapeutics and clinical risk management, ISSN 1176-6336, 2009, Volume 5, pp. 877 - 887
Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The... 
miglustat | Review | Niemann-Pick disease type C | NP-C | Zavesca
Journal Article
Journal Article