November 2011
28
9.
Imrie J, Dasgupta S, Besley GT, Harris C, Heptinstall L, Knight S, et al. The natural history of
Niemann-Pick disease type C in the UK.
J Inherit Metab Dis.
2007;30:51-59.
10.
Patterson MC. Niemann-Pick Disease Type C. In: Pagon RA, Bird TD, Dolan CR, Stephens K,
editors. GeneReviews [Internet] ed. Seattle: University of Washington; 1993.
11.
Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, et al. Cholesterol
oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1
disease.
Sci Transl Med.
2010;2:56
ra81.
12.
Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of Niemann-
Pick C disease: a randomised controlled study.
Lancet Neurol.
2007;6:765-772.
13.
Pineda M, Wraith JE, Mengel E, Sedel F, Hwu WL, Rohrbach M, et al. Miglustat in patients
with Niemann-Pick disease Type C (NP-C): a multicenter observational retrospective cohort
study.
Mol Genet Metab.
2009;98:243-249.
14.
Wraith JE, Imrie J. New therapies in the management of Niemann-Pick type C disease: clinical
utility of Miglustat.
Ther Clin Risk Manag.
2009;5:877-887.
15.
Erickson RP, Garver WS, Camargo F, Hossain GS, Heidenreich RA. 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.
2000;23:54-62.
16.
Hsu YS, Hwu WL, Huang SF, Lu MY, Chen RL, Lin DT, et al. Niemann-Pick disease type C (a
cellular cholesterol lipidosis) treated by bone marrow transplantation.
Bone Marrow
Transplant.
1999;24:103-107.
17.
Bonney DK, O'Meara A, Shabani A, Imrie J, Bigger BW, Jones S, et al. Successful allogeneic
bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a
severe 'graft versus substrate' effect.
J Inherit Metab Dis.
2010.
18.
Liu B, Turley SD, Burns DK, Miller AM, Repa JJ, Dietschy JM. Reversal of defective lysosomal
transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/-
mouse.
Proc Natl Acad Sci U S A.
2009;106:2377-2382.
19.
Davidson CD, Ali NF, Micsenyi MC, Stephney G, Renault S, Dobrenis K, et al. Chronic
cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol
and glycosphingolipid storage and disease progression.
PLoS One.
2009;4:
e6951.