3Scriver CR, Beaudet AL, Sly WS, et al. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001 : 3611-3633.
4Yang CC, Su YN, Chiou PC, et al. Six novel NPCl mutations in Chinese Patients with Niemann-Pick disease type C. J Neurol NetLrosurg Psychiatry, 2005, 76 : 592-595.
6Boustany RN, Kaye E, Alroy J. Ultrastructural findings in skin from patients with Niemann-Pick disease, type C. Pediatr Neurol, 1990, 6: 177-183.
7Carstea ED, Morris JA, Coleman KG, et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science, 1997, 277 : 228-231.
8van Diggelen OP, Voznyi YV, Keulemans JL, et al. A new fluorlmetrlc enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate. J Inherit Metab Dis, 2005,28: 733-741.
