Chinese Medical E-ournals Database
图1 患者骨髓涂片查见尼曼-匹克细胞
图2 患者基因测序结果
[1]
胡亚美,江载芳,主编.诸福棠实用儿科学.7版[M].北京:人民卫生出版社,2002:2154.
[2]
廖清奎,主编.小儿血液病基础与临床[M].北京:人民卫生出版社,2001:626–630.
[3]
Crocker AC, Farber S. Niemann-Pick disease: a review of eighteen patients[J]. Medicine, 1958, 37 (16) : 1–95.
[4]
Schuchman EH. The pathogensis and treatment of acid sphingomyelinase-deficient Nimannn-Pick disease [J]. J Inherit Metab Dis, 2007, 30(5) : 654–663.
[5]
Victor S, Coulter JB, Besley GT, et al. Niemann-Pick disease: sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant[J]. J Inherit Metab Dis, 2003, 26(8) : 775–785.
[6]
Quintern LE, Schuchman EH, Levtan O, et al. Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts [J]. EMBO, 1989, 8 (9): 2469–2473.
[7]
Murate T, Suzuki M, Hattori M, et al. Up-regulation of acid sphingomyelinase during retinoic acid-induced myeloid differentiation of NB4, a human acute promyelocytic leukemia cell line[J]. J Biol Chem, 2002, 277(12): 9936–9943.
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