Treatment of a child diagnosed with Niemann–Pick disease type C with miglustat: A case report in Brazil
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-008-0923-9
Reference18 articles.
1. Achenbach TM (1991) Manual for the Child Behavior Checklist/4-18 and 1991 Profile. Burlington, VT: University of Vermont Department of Psychiatry.
2. Achenbach TM, Ruffle TM (2000) The Child Behavior Checklist and related forms for assessing behavioral/emotional problems and competencies. Pediatr Rev 21: 265–271. doi: 10.1542/pir.21-8-265 .
3. Chien YH, Lee NC, Tsai LK, et al (2007) Treatment of Niemann–Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. J Inherit Metab Dis 30: 826–833. doi: 10.1007/s10545-007-0630-y .
4. Erickson RP, Garver WS, Camargo F, et al (2000) Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann–Pick C mice. J Inherit Metab Dis 23: 54–62. doi: 10.1023/A:1005650930330 .
5. Imrie J, Dasgupta S, Besley GT, et al (2007) The natural history of Niemann–Pick disease type C in the UK. J Inherit Metab Dis 30: 51–59. doi: 10.1007/s10545-006-0384-7 .
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