Author:
Pineda Mercedes,Mengel Eugen,Jahnová Helena,Héron Bénédicte,Imrie Jackie,Lourenço Charles M.,van der Linden Vanessa,Karimzadeh Parvaneh,Valayannopoulos Vassili,Jesina Pavel,Torres Juan V.,Kolb Stefan A.
Funder
Ministerstvo Zdravotnictví Ceské Republiky
Actelion Pharmaceuticals
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Reference17 articles.
1. Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.
2. Vanier MT. Phenotypic and genetic heterogeneity in Niemann-Pick disease type C: current knowledge and practical implications. Wiener Klin Wochenschr. 1997;109:68–73.
3. Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet. 2003;64:269–81.
4. Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, et al. Disease and patient characteristics in NP-C patients: findings from an international disease registry. Orphanet J Rare Dis. 2013;8:12.
5. Karimzadeh P, Tonekaboni SH, Ashrafi MR, Shafeghati Y, Rezayi A, Salehpour S, et al. Effects of miglustat on stabilization of neurological disorder in Niemann-Pick disease type C: Iranian pediatric case series. J Child Neurol. 2013;28:1599–606.
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