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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, 07/2012, Volume 106, Issue 3, pp. 330 - 344
Journal Article
Science Translational Medicine, ISSN 1946-6234, 09/2016, Volume 8, Issue 355, pp. 355ra118 - 355ra118
Journal Article
by Patterson, Marc C and Mengel, Eugen and Vanier, Marie T and Schwierin, Barbara and Muller, Audrey and Cornelisse, Peter and Pineda, Mercè and Amado-Fondo, A and Amraoui, Y and Andria, G and Arellano, M and Audoin, B and Azcona, C and Barr, C and Baruteau, J and Baumgartner, C and Bell, L and Bembi, B and Benneddif, K and Bernard, G and Bobocea, N and Bodzioch, M and Boettcher, T and Bonnan, M and Broue, P and Bruni, A and Caceres, M and Camino, R and Campbell, E and Cances, C and Cannell, P and Cesar, J and Chabrol, B and Chakrapani, A and Colao, R and Collet, A and Corsetti, T and Cousins, A and Covanis, A and Cox, T and Cuisset, J.M and Dardis, A and Das, A and Deegan, P and Dengler, T and Deodato, F and Derralynn, H and Di Donato, I and Di Rocco, M and Dinopoulos, A and Pakiela, Domanska and Eckehard, S and Engelen, M and Eyer, D and Fecarotta, S and Federico, A and Filla, A and Fiumara, A and Fonseca, M.J and Gabrielli, O and Garcia, T and Garrote, J and Gissen, P and Giugliani, L and Greenberg, C and Heron, B and Hertzberg, C and Higgins, F and Hill, A and Hiwot, T and Hlavata, A and Hörbe-Blindt, A and Howley, E and Hussain, N and Illsinger, S and Imrie, J and Jacklin, E and Jones, S and Jovanovic, A and Kaczmarek, V and Kaphan, E and Kibaek, M and Kleinhans, P and Klünemann, K.H and Koch, S.M and Koegl-Wallner, W and Kolnikova, M and Korenke, G.C and Korinthenberg, R and Kumari, S and Lachmann, R and Lee Ann, L and Likopoulou, L and Lilienthal, E and Link, B and Lippold, M and Lopez-Laso, E and Luecke, T and Lundgren, J and Mackrell, M and ... and NPC Registry Investigators and NPC Registry investigators and On behalf of the NPC Registry investigators and Child and Adolescent Psychiatry and Klinisk neurogenetik and Lund University and Barn- och ungdomspsykiatri and MultiPark: Multidisciplinary research focused on Parkinson´s disease and Clinical Neurogenetics and Lunds universitet
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 05/2015, Volume 10, Issue 1, p. 65
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Nature Medicine, ISSN 1078-8956, 11/2008, Volume 14, Issue 11, pp. 1247 - 1255
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