Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.

Apostolos Papandreou Ivan DoykovJustyna SpiewakNikita KomarovStephanie HabermannManju A Kurian Philippa B Mills Kevin A Mills Paul Gissen Wendy E Heywoodnull null

Published in: Developmental medicine and child neurology (2022)

Intelligent biomarker panel design can help expedite diagnosis in neurometabolic disorders. In Niemann-Pick type C disease, such a panel performed better than individual biomarkers. Biomarker panels are easy to implement and widely applicable to neurometabolic conditions.

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