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Items: 1 to 20 of 85

1.

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat.

Walterfang M, Chien YH, Imrie J, Rushton D, Schubiger D, Patterson MC.

Orphanet J Rare Dis. 2012 Oct 6;7:76. doi: 10.1186/1750-1172-7-76. Review.

2.

Early miglustat therapy in infantile Niemann-Pick disease type C.

Di Rocco M, Dardis A, Madeo A, Barone R, Fiumara A.

Pediatr Neurol. 2012 Jul;47(1):40-3. doi: 10.1016/j.pediatrneurol.2012.04.005.

PMID:
22704015
3.

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.

Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36.

4.

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group.

Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8.

PMID:
22572546
5.

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

Wijburg FA, Sedel F, Pineda M, Hendriksz CJ, Fahey M, Walterfang M, Patterson MC, Wraith JE, Kolb SA.

Neurology. 2012 May 15;78(20):1560-7. doi: 10.1212/WNL.0b013e3182563b82. Epub 2012 Apr 18.

PMID:
22517094
6.

Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.

Stein VM, Crooks A, Ding W, Prociuk M, O'Donnell P, Bryan C, Sikora T, Dingemanse J, Vanier MT, Walkley SU, Vite CH.

J Neuropathol Exp Neurol. 2012 May;71(5):434-48. doi: 10.1097/NEN.0b013e31825414a6.

7.

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.

Chien YH, Peng SF, Yang CC, Lee NC, Tsai LK, Huang AC, Su SC, Tseng CC, Hwu WL.

J Inherit Metab Dis. 2013 Jan;36(1):129-37. doi: 10.1007/s10545-012-9479-9. Epub 2012 Apr 5.

PMID:
22476655
8.

Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C.

Walterfang M, Macfarlane MD, Looi JC, Abel L, Bowman E, Fahey MC, Desmond P, Velakoulis D.

Eur J Neurol. 2012 Mar;19(3):462-7. doi: 10.1111/j.1468-1331.2011.03545.x.

PMID:
22329857
9.

Normalization of cholesterol homeostasis by 2-hydroxypropyl-β-cyclodextrin in neurons and glia from Niemann-Pick C1 (NPC1)-deficient mice.

Peake KB, Vance JE.

J Biol Chem. 2012 Mar 16;287(12):9290-8. doi: 10.1074/jbc.M111.326405. Epub 2012 Jan 25.

10.

Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases.

Lloyd-Evans E, Platt FM.

Cell Calcium. 2011 Aug;50(2):200-5. doi: 10.1016/j.ceca.2011.03.010. Epub 2011 Jul 2. Review.

PMID:
21724254
11.

Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables.

Walterfang M, Fahey M, Abel L, Fietz M, Wood A, Bowman E, Reutens D, Velakoulis D.

AJNR Am J Neuroradiol. 2011 Aug;32(7):1340-6. doi: 10.3174/ajnr.A2490. Epub 2011 May 19.

12.

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.

Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM, Fujiwara H, Scherrer DE, Zhang J, Dietzen DJ, Schaffer JE, Ory DS.

J Lipid Res. 2011 Jul;52(7):1435-45. doi: 10.1194/jlr.D015735. Epub 2011 Apr 24.

13.

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts.

Pipalia NH, Cosner CC, Huang A, Chatterjee A, Bourbon P, Farley N, Helquist P, Wiest O, Maxfield FR.

Proc Natl Acad Sci U S A. 2011 Apr 5;108(14):5620-5. doi: 10.1073/pnas.1014890108. Epub 2011 Mar 21.

14.

Function of the Niemann-Pick type C proteins and their bypass by cyclodextrin.

Vance JE, Peake KB.

Curr Opin Lipidol. 2011 Jun;22(3):204-9. doi: 10.1097/MOL.0b013e3283453e69. Review.

PMID:
21412152
15.

The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat.

Fecarotta S, Amitrano M, Romano A, Della Casa R, Bruschini D, Astarita L, Parenti G, Andria G.

Am J Med Genet A. 2011 Mar;155A(3):540-7. doi: 10.1002/ajmg.a.33847. Epub 2011 Feb 22.

PMID:
21344635
16.

Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease.

Porter FD, Scherrer DE, Lanier MH, Langmade SJ, Molugu V, Gale SE, Olzeski D, Sidhu R, Dietzen DJ, Fu R, Wassif CA, Yanjanin NM, Marso SP, House J, Vite C, Schaffer JE, Ory DS.

Sci Transl Med. 2010 Nov 3;2(56):56ra81. doi: 10.1126/scitranslmed.3001417.

17.

Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann-Pick type C1 mouse and markedly prolongs life.

Ramirez CM, Liu B, Taylor AM, Repa JJ, Burns DK, Weinberg AG, Turley SD, Dietschy JM.

Pediatr Res. 2010 Oct;68(4):309-15. doi: 10.1203/00006450-201011001-00604.

18.

Niemann-Pick disease type C.

Vanier MT.

Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. Review.

19.

White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study.

Walterfang M, Fahey M, Desmond P, Wood A, Seal ML, Steward C, Adamson C, Kokkinos C, Fietz M, Velakoulis D.

Neurology. 2010 Jul 6;75(1):49-56. doi: 10.1212/WNL.0b013e3181e6210e. Epub 2010 May 19.

PMID:
20484681
20.

2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease.

Ward S, O'Donnell P, Fernandez S, Vite CH.

Pediatr Res. 2010 Jul;68(1):52-6. doi: 10.1203/00006450-201011001-00099.

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