Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Sechi, Annalisa ^a   Dardis, Andrea ^a   Zampieri, Stefania ^a   Rabacchi, Claudio ^b   Zanoni, Paolo ^b   Calandra, Sebastiano ^b   De Maglio, Giovanna ^a   Pizzolitto, Stefano ^a   Maruotti, Valerio ^c   Di Muzio, Antonio ^c   Platt, Frances ^d   Bembi, Bruno ^a  

^a SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

^d UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Glycosphingolipids; Miglustat; Niemann pick type C; Tangier disease

Indexed keywords

ABC TRANSPORTER A1; FILIPIN; GLYCOSPHINGOLIPID; MIGLUSTAT; 1 DEOXYNOJIRIMYCIN; ABCA1 PROTEIN, HUMAN;

ADULT; ARTICLE; ATAXIA; CASE REPORT; DIAGNOSTIC ERROR; DRUG EFFECT; DYSARTHRIA; DYSPHAGIA; FEMALE; HUMAN; HUMAN CELL; LYMPHEDEMA; NEURODERMATITIS; NIEMANN PICK DISEASE; PANCYTOPENIA; SPLENOMEGALY; TANGIER DISEASE; ANALOGS AND DERIVATIVES; GENETICS; MIDDLE AGED; TREATMENT OUTCOME;

1-DEOXYNOJIRIMYCIN; ATP BINDING CASSETTE TRANSPORTER 1; FEMALE; HUMANS; MIDDLE AGED; TANGIER DISEASE; TREATMENT OUTCOME;

EID: 84908207916     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0143-3     Document Type: Article

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