Niemann-Pick disease type C clinical database: Cognitive and coordination deficits are early disease indicators

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Stampfer, Miriam ^a   Theiss, Susanne ^a   Amraoui, Yasmina ^b   Jiang, Xuntian ^c   Keller, Sigrid ^b   Ory, Daniel S ^c   Mengel, Eugen ^b   Fischer, Christine ^a   Runz, Heiko ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Cholesterol; Clinical repository; Genotype phenotype; Neurodegenerative disease; Oxysterols

Indexed keywords

7 OXOCHOLESTEROL; CHOLESTANETRIOL; NPC1 PROTEIN; NPC2 PROTEIN; OXYSTEROL; PROTEIN; UNCLASSIFIED DRUG;

AGE; ARTICLE; ATAXIA; BALANCE DISORDER; CHOLESTEROL BLOOD LEVEL; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; COHORT ANALYSIS; COORDINATION DISORDER; DATA BASE; DISEASE COURSE; DISEASE DURATION; DYSARTHRIA; DYSPHAGIA; DYSTONIA; FECES INCONTINENCE; GAIT DISORDER; GAZE PARALYSIS; GERMANY; HUMAN; LIPID BLOOD LEVEL; MEDICAL HISTORY; MEMORY DISORDER; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PREDICTIVE VALUE; PROGNOSIS; QUESTIONNAIRE; RESTLESSNESS; SACCADIC EYE MOVEMENT; SCORING SYSTEM; SEIZURE; SPASTICITY; SPEECH DISORDER; SWEDEN; URINE INCONTINENCE; COGNITION DISORDERS; FACTUAL DATABASE; FEMALE; MALE; METABOLISM; NIEMANN-PICK DISEASE, TYPE C; PARALYSIS; PATHOPHYSIOLOGY; PSYCHOLOGY; STANDARDS; PSYCHOLOGICAL ASPECT; STANDARD;

ATAXIA; COGNITION DISORDERS; DATABASES, FACTUAL; DISEASE PROGRESSION; FEMALE; HUMANS; MALE; NIEMANN-PICK DISEASE, TYPE C; PARALYSIS; QUESTIONNAIRES;

EID: 84874080589     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-35     Document Type: Article

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