Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Fecarotta, Simona ^a   Romano, Alfonso ^a   Della Casa, Roberto ^a   Del Giudice, Ennio ^a   Bruschini, Diana ^a   Mansi, Giuseppina ^a   Bembi, Bruno ^b   Dardis, Andrea ^b   Fiumara, Agata ^c   Di Rocco, Maja ^d   Uziel, Graziella ^e   Ardissone, Anna ^e   Roccatello, Dario ^f   Alpa, Mirella ^f   Bertini, Enrico ^g   D'Amico, Adele ^g   Dionisi Vici, Carlo ^g   Deodato, Federica ^g   Caviglia, Stefania ^g   Federico, Antonio ^h   Palmeri, Silvia ^h   Gabrielli, Orazio ⁱ   Santoro, Lucia ⁱ   Filla, Alessandro ^a   Russo, Cinzia ^a   Parenti, Giancarlo ^a   Andria, Generoso ^a   more..

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

^d G GASLINI INSTITUTE   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f UNIVERSITY OF TURIN   (Italy)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^h UNIVERSITY OF SIENA   (Italy)

ⁱ UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

Author keywords

Miglustat; NB DNJ; Niemann Pick disease type C; NPC; Substrate reduction therapy; Therapy; Treatment

Indexed keywords

MIGLUSTAT; 1 DEOXYNOJIRIMYCIN; ENZYME INHIBITOR;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL TRIAL; COGNITIVE DEFECT; COHORT ANALYSIS; CONTROLLED STUDY; DIARRHEA; DISEASE COURSE; DISEASE SEVERITY; DRUG DOSE REDUCTION; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; DYSARTHRIA; DYSMETRIA; DYSTONIA; EPISTAXIS; EXTRAPYRAMIDAL SYMPTOM; FEMALE; FOLLOW UP; GAIT DISORDER; HUMAN; HYPERTRANSAMINASEMIA; INFANT; INSOMNIA; ITALIAN (CITIZEN); LEUKOPENIA; MALE; MULTICENTER STUDY; NIEMANN PICK DISEASE; PHENOTYPE; PROBLEM BEHAVIOR; SIDE EFFECT; THROMBOCYTOPENIA; TREMOR; WEIGHT REDUCTION; ANALOGS AND DERIVATIVES; CHILD; DRUG ADMINISTRATION; ITALY; NIEMANN-PICK DISEASE, TYPE C; PRESCHOOL CHILD; YOUNG ADULT;

1-DEOXYNOJIRIMYCIN; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DRUG ADMINISTRATION SCHEDULE; ENZYME INHIBITORS; FEMALE; HUMANS; INFANT; ITALY; MALE; NIEMANN-PICK DISEASE, TYPE C; YOUNG ADULT;

EID: 84928728873     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0240-y     Document Type: Article

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