Cerebellar Ataxia, Vertical Supranuclear Gaze Palsy, Sensorineural Deafness, Epilepsy, Dementia, and Hallucinations in an Adolescent Male
Tài liệu tham khảo
Patterson, 2000, Niemann-Pick disease type C
Patterson, 2013, Disease and patient characteristics in NP-C patients: Findings from an international disease registry, Orphanet J Rare Dis, 8, 12, 10.1186/1750-1172-8-12
Patterson MC, Hendriksz CJ, Walterfang M, et al. NP-C Guidelines Working Group. Recommendations for the diagnosis and management of Niemann-Pick disease type C: An update. Mol Genet Metab 106(3):330-344, 2012