High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

Forbes D. Porter, David E. Scherrer, M. Hunter Lanier et al. · Science Translational Medicine · 2010 · 339 citations · Full text

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik et al. · Orphanet Journal of Rare Diseases · 2018 · 173 citations · Full text

Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C

Frits A. Wijburg, F. Sedel, M. Pineda et al. · Neurology · 2012 · 150 citations

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

Anne‐Katrin Giese, Hermann Mascher, Ulrike Grittner et al. · Orphanet Journal of Rare Diseases · 2015 · 126 citations · Full text

Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study

Peter Bauer, David J. Balding, Hans H. Klünemann et al. · Human Molecular Genetics · 2013 · 82 citations · Full text