Early miglustat therapy in infantile Niemann-Pick disease type C

Pediatric Neurology

Volumn 47, Issue 1, 2012, Pages 40-43

  Di Rocco, Maja ^a   Dardis, Andrea ^b   Madeo, Annalisa ^a   Barone, Rita ^c   Fiumara, Agata ^c  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY HOSPITAL OF UDINE   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHITOTRIOSIDASE; MIGLUSTAT;

ARTICLE; CASE REPORT; CHILD; DRUG TOLERABILITY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HEPATOSPLENOMEGALY; HUMAN; INFANT; MALE; MEDICAL HISTORY; NIEMANN PICK DISEASE; NPCI GENE; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPLENOMEGALY;

1-DEOXYNOJIRIMYCIN; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; ENZYME INHIBITORS; FEMALE; HUMANS; LONGITUDINAL STUDIES; MEMBRANE GLYCOPROTEINS; MUTATION; NIEMANN-PICK DISEASE, TYPE C;

EID: 84862535666     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2012.04.005     Document Type: Article

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