Clinical diagnosis of the adult form of Niemann-Pick type C disease;Diagnostic clinique des formes de l'adulte de la maladie de Niemann-Pick type C

Archives de Pediatrie

Volumn 17, Issue SUPPL. 2, 2010, Pages

  Sedel, F ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Adulte; Erreurs inn es du m tabolisme; Maladies lysosomales; Maladies m taboloiques h r ditaires; Niemann Pick type C; Paralysie supranucl aire

Indexed keywords

FILIPIN; 1 DEOXYNOJIRIMYCIN; ENZYME INHIBITOR; MIGLUSTAT;

ABDOMINAL RADIOGRAPHY; ADULT; ARTICLE; BIOCHEMISTRY; CEREBELLAR ATAXIA; CHILDHOOD; CLINICAL FEATURE; COGNITIVE DEFECT; DIAGNOSTIC TEST; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE DURATION; DISEASE SEVERITY; DYSARTHRIA; EARLY DIAGNOSIS; GENETICS; HEPATOSPLENOMEGALY; HUMAN; MENTAL DISEASE; MOTOR DYSFUNCTION; NIEMANN PICK DISEASE; PARALYSIS; PHENOTYPE; ULTRASOUND; VERTICAL SUPRANUCLEAR GAZE PALSY; ANALOGS AND DERIVATIVES; COGNITION DISORDERS; DEGLUTITION DISORDERS; EPILEPSY; MENTAL DISORDERS; MOVEMENT DISORDERS; NIEMANN-PICK DISEASE, TYPE C; PSYCHOLOGY; SPLENOMEGALY; SUPRANUCLEAR PALSY, PROGRESSIVE;

1-DEOXYNOJIRIMYCIN; ADULT; CEREBELLAR ATAXIA; COGNITION DISORDERS; DEGLUTITION DISORDERS; DYSARTHRIA; ENZYME INHIBITORS; EPILEPSY; HUMANS; MENTAL DISORDERS; MOVEMENT DISORDERS; NIEMANN-PICK DISEASE, TYPE C; SPLENOMEGALY; SUPRANUCLEAR PALSY, PROGRESSIVE;

EID: 77954147835     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-693X(10)70012-9     Document Type: Article

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