Use of miglustat in a child with late-infantile-onset Niemann-Pick disease type C and frequent seizures: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/article/10.1186/1752-1947-6-383/fulltext.html
Reference10 articles.
1. Vanier MT: Niemann-Pick disease type C. Orphanet J Rare Dis. 2010, 5: 16-10.1186/1750-1172-5-16.
2. Vanier MT, Millat G: Niemann-Pick disease type C. Clin Genet. 2003, 64: 269-281. 10.1034/j.1399-0004.2003.00147.x.
3. Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topcu M, Vanier MT, Widner H, Wijburg FA, Patterson MC: Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab. 2009, 98: 152-165. 10.1016/j.ymgme.2009.06.008.
4. Wraith JE, Vecchio D, Jacklin E, Abel L, Chadha-Boreham H, Luzy C, Giorgino R, Patterson MC: Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial. Mol Genet Metab. 2010, 99: 351-357. 10.1016/j.ymgme.2009.12.006.
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: 765-772. 10.1016/S1474-4422(07)70194-1.
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1. Case Report: Be Aware of “New” Features of Niemann–Pick Disease: Insights From Two Pediatric Cases;Frontiers in Genetics;2022-03-11
2. Neonatal cholestasis and Niemann-pick type C disease: A literature review;Clinics and Research in Hepatology and Gastroenterology;2021-11
3. Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease;The Cerebellum;2020-06-22
4. Role of STARD4 and NPC1 in intracellular sterol transport;Biochemistry and Cell Biology;2016-12
5. Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann–Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report;Journal of Medical Case Reports;2016-09-06
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