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Niemann-Pick type C disease in a 68-year-old patient.

作者信息

Trendelenburg G, Vanier M T, Maza S, Millat G, Bohner G, Munz D L, Zschenderlein R

出版信息

J Neurol Neurosurg Psychiatry. 2006 Aug;77(8):997-8. doi: 10.1136/jnnp.2005.086785.

Abstract
摘要

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本文引用的文献

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Substrate reduction therapy for lysosomal storage diseases.
Acta Paediatr Suppl. 2005 Mar;94(447):69-75; discussion 57. doi: 10.1111/j.1651-2227.2005.tb02116.x.
2
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.
Neurobiol Dis. 2004 Aug;16(3):654-8. doi: 10.1016/j.nbd.2004.05.002.
3
A riddle wrapped in a mystery: understanding Niemann-Pick disease, type C.
Neurologist. 2003 Nov;9(6):301-10. doi: 10.1097/01.nrl.0000094627.78754.5b.
4
Niemann-Pick disease type C.
Clin Genet. 2003 Oct;64(4):269-81. doi: 10.1034/j.1399-0004.2003.00147.x.

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