Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease

Gene

Volumn 506, Issue 1, 2012, Pages 207-210

  Pérez Poyato, María Socorro ^a   Gordo, M Mar O'Callaghan ^a,b   Marfa, Mercé Pineda ^a,b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Disability scale; Miglustat; Niemann Pick type C disease (NP C); NPC1 gene; Side effects; Therapeutic options

Indexed keywords

FILIPIN; MIGLUSTAT;

ADOLESCENT; ARTICLE; ATAXIA; BONE MARROW BIOPSY; CASE REPORT; CATAPLEXY; CEREBELLUM ATROPHY; CHILD; CHOLESTASIS; COGNITIVE DEFECT; DIARRHEA; DISABILITY; DRUG EFFICACY; DYSARTHRIA; DYSMETRIA; DYSPHAGIA; FEMALE; FOLLOW UP; GAIT DISORDER; HEPATOSPLENOMEGALY; HISTIOCYTE; HUMAN; LEARNING DISORDER; MACROPHAGE; MALE; MODIFIED DISABILITY SCALE; NEWBORN; NIEMANN PICK DISEASE; OPHTHALMOPLEGIA; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RATING SCALE; SPEECH DISORDER; SPLENOMEGALY; TONIC CLONIC SEIZURE;

1-DEOXYNOJIRIMYCIN; ADOLESCENT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DISABILITY EVALUATION; DISEASE PROGRESSION; ENZYME INHIBITORS; FEMALE; GLUCOSYLTRANSFERASES; HUMANS; INFANT; INFANT, NEWBORN; LANGUAGE DEVELOPMENT DISORDERS; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C;

EID: 84864523471     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.06.054     Document Type: Article

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