Developmental Medicine & Child Neurology · 2022 · 11 citations · 25 references
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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Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis
Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations
Identification of <i>HE1</i> as the Second Gene of Niemann-Pick C Disease
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