| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833782 | Molecular Genetics and Metabolism | 2012 | 15 Pages |
Abstract
⺠Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease. ⺠The first international guidelines for managing NP-C were published in 2009. ⺠This article serves as an update to the original guidelines.
Keywords
MTRMLPAMMSEPARCGMDSWISCDTIBSIDASMWMSPSPNPIICARSInternational Cooperative Ataxia Rating ScaleCCL18ACENB-DNJNaAN-butyldeoxynojirimycinGSLchemokine (C-C motif) ligand 18ECTCVSBPRSDDSTglycosphingolipidVineland Adaptive Behavior ScalesDenver Developmental Screening TestNSAIDSN-acetyl aspartateALATAspartate aminotransferaseAlanine aminotransferaseAsatacid sphingomyelinaseElectroencephalogramElectro-convulsive therapyMRIFrontal assessment batteryNiemann–Pick disease type CHuntington's diseaseDiagnosisProton magnetic resonance spectroscopic imagingdiffusion tensor imagingMagnetic resonance imagingmultiplex ligation-dependent probe amplificationPositron emission tomographySaccadic eye movementNon-steroidal anti-inflammatory drugsTreatmentVABSScreeningFabSEMMini-Mental State ExaminationWechsler Memory ScaleBrief Psychiatric Rating ScaleWechsler Adult Intelligence ScaleWechsler Intelligence Scale for ChildrenBarschorionic villus samplingEEGWAISPETNeuropsychiatric InventoryGuidelines
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Authors
Marc C. Patterson, Christian J. Hendriksz, Mark Walterfang, Frederic Sedel, Marie T. Vanier, Frits Wijburg, on behalf of the NP-C Guidelines Working Group on behalf of the NP-C Guidelines Working Group,