Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.

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第一作者： Mario,Cortina-Borja

第一单位： Population, Policy and Practice Programme, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK. m.cortina@ucl.ac.uk.

作者： Mario,Cortina-Borja ^[1] ; Danielle,Te Vruchte ^[2] ; Eugen,Mengel ^[3] ; Yasmin,Amraoui ^[3] ; Jackie,Imrie ^[4] ; Simon A,Jones ^[5] ; Christine,I Dali ^[6] ; Paul,Fineran ^[2] ; Thomas,Kirkegaard ^[6] ; Heiko,Runz ^[7] ; Robin,Lachmann ^[8] ; Tatiana,Bremova-Ertl ^[9] ; Michael,Strupp ^[9] ; Frances M,Platt ^[10]

作者单位： Population, Policy and Practice Programme, UCL Great Ormond Street Institute of Child Health, London, WC1N 1EH, UK. m.cortina@ucl.ac.uk. ^[1] Department of Pharmacology, University of Oxford, Oxford, OX1 3QT, UK. ^[2] Children's Hospital, University of Mainz Medical Centre, D-55131, Mainz, Germany. ^[3] NPUK, Vermont House, Concord, Washington, Tyne and Wear, NE13 2SQ, UK. ^[4] Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester, M13 9WL, UK. ^[5] Orphazyme A/S, Ole Maaløes Vej 3, DK-2200, Copenhagen N, Denmark. ^[6] Biogen Inc., Cambridge, MA, USA. ^[7] National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. ^[8] Department of Neurology and German Center for Vertigo and Balance Disorders, Ludwig-Maximilians-University Hospital Munich, Campus Großhadern, Marchioninistr. 15, 81377, Munich, Germany. ^[9] Department of Pharmacology, University of Oxford, Oxford, OX1 3QT, UK. frances.platt@pharm.ox.ac.uk. ^[10]

关键词 ASIS Acetyl-DL-leucine Annual severity increment score Clinical severity scale Clinical trials Experimental therapy NPC Niemann-Pick disease type C Tanganil