Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine
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Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann‐Pick type C patients - Hammerschmidt - 2018 - International Journal of Developmental Neuroscience - Wiley Online Library
Niemann-Pick Type C 1 ( NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition - IOS Press
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Niemann-Pick Type C 1 ( NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition - IOS Press
Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism
