Treatment of a child diagnosed with Niemann-Pick disease type C with miglustat: a case report in Brazil.

Santos, M L F; Raskin, S; Telles, D S; Löhr, A; Liberalesso, P B N; Vieira, S C; Cordeiro, M L

Santos, M L F; Raskin, S; Telles, D S; Löhr, A; Liberalesso, P B N; Vieira, S C; Cordeiro, M L.

Affiliation

Santos ML; Department of Neuropediatrics, Pequeno Príncipe Children's Hospital, Curitiba, Brazil.

J Inherit Metab Dis ; 31 Suppl 2: S357-61, 2008 Dec.

Article in En | MEDLINE | ID: mdl-18937049

Subject(s)

1-Deoxynojirimycin/analogs & derivatives; Enzyme Inhibitors/therapeutic use; Glucosyltransferases/antagonists & inhibitors; Niemann-Pick Disease, Type C/drug therapy; 1-Deoxynojirimycin/therapeutic use; Brazil; Child; Child Behavior/drug effects; Child Development/drug effects; Disability Evaluation; Female; Glucosyltransferases/metabolism; Humans; Magnetic Resonance Imaging; Niemann-Pick Disease, Type C/complications; Niemann-Pick Disease, Type C/diagnosis; Niemann-Pick Disease, Type C/enzymology; Recovery of Function; Severity of Illness Index; Time Factors; Treatment Outcome

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: 1-Deoxynojirimycin / Enzyme Inhibitors / Niemann-Pick Disease, Type C / Glucosyltransferases Type of study: Diagnostic_studies Limits: Child / Female / Humans Country/Region as subject: America do sul / Brasil Language: En Journal: J Inherit Metab Dis Year: 2008 Type: Article Affiliation country: Brazil

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