Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update

Molecular Genetics and Metabolism

Volumn 106, Issue 3, 2012, Pages 330-344

  Patterson, Marc C ^a   Hendriksz, Christian J ^b   Walterfang, Mark ^c   Sedel, Frederic ^d   Vanier, Marie T ^e   Wijburg, Frits ^f  

^a MAYO CLINIC   (United States)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c ROYAL MELBOURNE HOSPITAL   (Australia)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e INSERM   (France)

^f UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Diagnosis; Guidelines; Niemann Pick disease type C; Screening; Treatment

Indexed keywords

MIGLUSTAT; UREA;

ARTICLE; ATAXIA; CATARACT; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL FEATURE; COGNITIVE DEFECT; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; DYSARTHRIA; DYSPHAGIA; DYSTONIA; FLUOROSCOPY; GENE MUTATION; HUMAN; JUVENILE CATARACT; MEDICAL HISTORY; MENTAL DISEASE; MUSCLE HYPOTONIA; MYOCLONUS; NEUROBIOLOGY; NIEMANN PICK DISEASE; PATIENT MONITORING; PHYSICAL EXAMINATION; PRACTICE GUIDELINE; PREDICTION; PRIORITY JOURNAL; PROGNOSIS; SEIZURE; SLEEP DISORDER; SPLENOMEGALY; WILSON DISEASE;

CHILD; HUMANS; NERVOUS SYSTEM DISEASES; NIEMANN-PICK DISEASE, TYPE C;

EID: 84862532953     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.03.012     Document Type: Article

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