新生儿C型尼曼匹克病2例报告

刘晔, 步军, 王亮君

中国儿童保健杂志 ›› 2022, Vol. 30 ›› Issue (6) : 694-696.

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中国儿童保健杂志 ›› 2022, Vol. 30 ›› Issue (6) : 694-696. DOI: 10.11852/zgetbjzz2021-1227
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新生儿C型尼曼匹克病2例报告

  • 刘晔, 步军, 王亮君
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刘晔, 步军, 王亮君. 新生儿C型尼曼匹克病2例报告[J]. 中国儿童保健杂志. 2022, 30(6): 694-696 https://doi.org/10.11852/zgetbjzz2021-1227
中图分类号: R722.1   

参考文献

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[3] Geberhiwot T, Moro A, Dardis A, et al. Consensus clinical management guidelines for Niemann-Pick disease type C[J]. Orphanet J Rare Dis, 2018, 13(1):50-53.
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[5] Spiegel R, Raas-Rothschild A, Reish O, et al. The clinical spectrum of fetal Niemann-Pick type C[J]. Am J Med Genet A, 2009, 149(3):446-450.
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[7] Wraith JE, Vecchio D, Jacklin E, et al. Miglustat in adult and juvenile patients with Niemann-Pick disease type C:Long-term data from a clinical trial[J]. Mol Genet Metab, 2010, 99(4):351-357.
[8] Patterson MC, Garver WS, Giugliani R, et al. Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study[J]. J Inherit Metab Dis, 2020, 43(5):1060-1069.
[9] Hassani MA, Alami M, Baba AF, et al. Niemann Pick disease A: a case report[J]. Ann Biol Clin, 2010, 68(6):733-735.
[10] Schneiderman J, Thormann K, Charrow J, et al. Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann-Pick type B[J]. Pediatr Blood Cancer, 2007, 49(7):987-989.
[11] Hughes MP, Smith DA, Morris L, et al. AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease[J]. Hum Mol Genet, 2018, 27(17):3079-3098.

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