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Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2019, Volume 126, Issue 2, pp. S46 - S46
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S29 - S29
Journal Article
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
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2016, Volume 117, Issue 2, pp. S38 - S38
Journal Article
BBA - Molecular Cell Research, ISSN 0167-4889, 2009, Volume 1793, Issue 4, pp. 726 - 736
Journal Article
Journal Article
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
PLoS ONE, ISSN 1932-6203, 09/2009, Volume 4, Issue 9, p. e6951
Journal Article
BBA - Molecular and Cell Biology of Lipids, ISSN 1388-1981, 2004, Volume 1685, Issue 1, pp. 48 - 62
Journal Article