Niemann-Pick disease type C symptomatology: An expert-based clinical description

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Mengel, Eugen ^a   Klünemann, Hans Hermann ^b   Lourenço, Charles M ^c   Hendriksz, Christian J ^d   Sedel, Frédéric ^e   Walterfang, Mark ^f   Kolb, Stefan A ^g  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g ACTELION PHARMACEUTICALS LTD   (Switzerland)

Author keywords

Ataxia; Cognitive impairment; Diagnosis; Dystonia; Gelastic cataplexy; Lysosomal lipid storage disease; Niemann Pick disease type C; Splenomegaly; Vertical supranuclear gaze palsy

Indexed keywords

ATAXIA; CATAPLEXY; CLINICAL ASSESSMENT; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; DYSARTHRIA; DYSPHAGIA; DYSTONIA; EARLY DIAGNOSIS; GAZE PARALYSIS; MENTAL DETERIORATION; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NIEMANN PICK DISEASE; OBSTRUCTIVE JAUNDICE; ONSET AGE; PROGNOSIS; REVIEW; SACCADIC EYE MOVEMENT; SCHIZOAFFECTIVE PSYCHOSIS; SEIZURE; SPLENOMEGALY; SYMPTOMATOLOGY; FEMALE; HUMAN; MALE; NIEMANN-PICK DISEASE, TYPE C; PATHOPHYSIOLOGY;

FEMALE; HUMANS; MALE; NIEMANN-PICK DISEASE, TYPE C;

EID: 84886672179     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-166     Document Type: Review

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