1Alizon C,Beucher AB,Gourdier AL,et al.Type B Niemann Pick disease:Clinical description of three patients in a same family[J].Rev Med Interne,2010,31 (8):562-565.
2Simonaro CM,Park JH,Eliyahu E,et al.Imprinting at the SMPD-1 locus:implication for acid sphingomyelinase deficient Niemann-Pick disease[J].Am J Hum Genet,2006,78(5):865-870.
3Schuchman EH.The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease[J].J Inherit Metab Dis,2007,30(5):654-663.
4Schuchman EH.The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-pick disease[J].Int J Clin Pharmacol Ther,2009,47,Suppl 1:S48-57.
5Ries M,Schaefer E,Luhrs T,et al.Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C[J].Inherit Metab Dis,2006,29(5):647-652.
6Storch J and Xu Z.Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking[J].Biochim Biophys Acta,2009,1791 (7):671-678.
7Lee CY,Krimbou L,Vincent J,et al.Compound Heterozygosity at the sphingomyclin phosphodiesterase-1(SMPD1) gene is associated with low HDL cholesterol[J].Human Gene,2003,112(5-6):552-562.
8McGovern MM,Wasserstein MP,Giugliani R,et al.A prospective,cross-sectional survey study on the natural history of Niemann-Pick disease type B[J].Pediatrics,2008,122(2):e341-349.
9Shah AJ,Kapoor N,Crooks GM,et al.Successful hematopoieric stem cell transplantation for Niemann-Pick disease type B[J].Pediatrics,2005,116(4):1022-1025.
10Mellon SH,Gong W,Schonemann MD.Endogenous and synthetic neurosteroids in treatment of Niemann-Pick type C disease[J].Brain Res Rev,2008,57(2):410-420.
2Simonaro CM, Park JH, Eliyahu E, et al. Imprinting at the SMPD-1 locus: implication for acid sphingomyelinase deficient Niemann-Pickdisease[J]. Am J Hum Genet, 2006, 78(5): 865-870.
3VanierMT, Millat G. Niemann-Pick disease type C [J]. Clin Genet, 2003, 64(4): 269-281.
4McGovern MM, Lippa N, Bagiella E et al. Morbidity and mortality in type B Niemarm-Pick disease[J]. Genet Med, 2013, 15(8): 618-623.
5Wasserstein MP, Desnick RJ, Schuchmann EH et al. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study[J]. Pediatrics, 2004, 114(6): 672-677.
6Leventahl AR, Chen W, Tall AR, et al. Acid sphingomyelinase- deficient macrophages have defective cholesterol trafficking and effiux[J]. J Biol Chem, 2001, 276(48): 44976-44983.
7McGovern MM, Pohl-Worgall T, Deckelbaum R J, et al. Lipid abnormalities in children with type A and B Niemarm-Pick disease[J]. J Pediatr, 2004, 145(1): 77-81.
