The Niemann-Pick Disease Type C Suspicion Index: Development of a New Tool to Aid Diagnosis

1 Manchester Academic Health Science Centre (MAHSC), Salford Royal NHS Foundation Trust, University of Manchester, Manchester, UK, and University of Pretoria, Steve Biko Academic Hospital, Department of Paediatrics and Child Health, Pretoria, South Africa 2 Fundació, Hospital Sant Joan de Déu, Centre for Biomedical Research on Rare Diseases, CIBERER, Instituto de Salud Carlos III, Barcelona, Spain 3 Department of Paediatrics, Monash University, Clayton, Victoria, Australia 4 Department of Neuropsychiatry, Royal Melbourne Hospital and Melbourne Neuropsychiatry Center, University of Melbourne, Melbourne, Victoria, Australia 5 Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany 6 Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany 7 Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA 8 Syntax for Science SL, Basel, Switzerland 9 Actelion Pharmaceuticals Ltd, Allschwil, Switzerland