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. 被引量:1
3VanierMT, Millat G. Niemann-Pick disease type C [J]. Clin Genet, 2003, 64(4): 269-281. 被引量:1
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. 被引量:1
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. 被引量:1
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. 被引量:1
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. 被引量:1