Miglustat: A Review of Its Use in Niemann-Pick Disease Type C
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical)
Link
http://link.springer.com/content/pdf/10.1007/s40265-013-0164-6.pdf
Reference84 articles.
1. Patterson MC, Hendriksz CJ, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012;106(3):330–44.
2. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.
3. Park WD, O’Brien JF, Lundquist PA, et al. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat. 2003;22(4):313–25.
4. Fernandez-Valero EM, Ballart A, Iturriaga C, et al. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype–phenotype correlations. Clin Genet. 2005;68(3):245–54.
5. Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, et al. Molecular analysis of 30 Niemann-Pick type C patients from Spain. Clin Genet. 2011;80(1):39–49.
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