Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C-Reference-Cited by-同舟云学术

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Published:2015-02-27 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Fecarotta Simona,Romano Alfonso,Della Casa Roberto,Del Giudice Ennio,Bruschini Diana,Mansi Giuseppina,Bembi Bruno,Dardis Andrea,Fiumara Agata,Di Rocco Maja,Uziel Graziella,Ardissone Anna,Roccatello Dario,Alpa Mirella,Bertini Enrico,D’Amico Adele,Dionisi-Vici Carlo,Deodato Federica,Caviglia Stefania,Federico Antonio,Palmeri Silvia,Gabrielli Orazio,Santoro Lucia,Filla Alessandro,Russo Cinzia,Parenti Giancarlo,Andria Generoso

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0240-y.pdf

Reference21 articles.

1. Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet. 2003;64:269–81.

2. Millat G, Baïlo N, Molinero S, Rodriguez C, Chikh K, Vanier MT. Niemann-Pick Cdisease: use of denaturing high performance liquid chromatography for thedetection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Mol Genet Metab. 2005;86:220–32.

3. Wraith JE, Guffon N, Rohrbach M, Hwu WL, Korenke GC, Bembi B, et al. Natural history of Niemann-Pick disease type C in a multicenter observational retrospective cohort study. Mol Genet Metab. 2009;98:250–4.

4. Lachmann RH, te Vruchte D, Lloyd-Evans E, Reinkensmeier G, Sillence DJ, Fernandez-Guillen L, et al. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis. 2004;16:654–8.

5. 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;6:765–72.

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