1. |
Lee JS, Choi JM, Lee M, et al. Diagnostic challenge for the rare lysosomal storage disease: late infantile GM1 gangliosidosis[J]. Brain Dev, 2018, 40(5): 383-390. DOI: 10.1016/j.braindev.2018.01.009.
|
2. |
Maegawa GHB, Stockley T, Tropak M, et al. The natural history of juvenile or subacute GM2 Gangliosid -osis: 21 new cases and literature review of 134 previously reported[J]. Pediatrics, 2006, 118(5): 1550-1562. DOI: 10.1542/peds.2006-0588.
|
3. |
Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects[J]. Mol Genet Metab, 2008, 94(4): 391-396. DOI: 10.1016/j.ymgme.2008.04.012.
|
4. |
Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders[J]. JAMA, 1999, 281(3): 249-254. DOI: 10.1001/jama.281.3.249.
|
5. |
Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model[J]. Eur J Pediatr, 2000, 159(Suppl 3): S192-195. DOI: 10.1007/pl00014401.
|
6. |
Kaback MM, Zeiger RS, Reynolds LW, et al. Approaches to the control and prevention of Tay-Sachs disease[J]. Prog Med Genet, 1974, 10: 103-134.
|
7. |
Triggs-Raine BL, Feigenbaum AS, Natowicz M, et al. Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests[J]. N Engl J Med, 1990, 323(1): 6-12. DOI: 10.1056/NEJM199007053230102.
|
8. |
Bidchol AM, Dalal A, Trivedi R, et al. Recurrent and novel GLB1 mutations in India[J]. Gene, 2015, 567(2): 173-181. DOI: 10.1016/j.gene.2015.04.078.
|
9. |
邹婷, 肖波, 彭隆祥, 等. 脑活检诊断GM2神经节苷脂沉积症[J]. 医学临床研究, 2007, 24(11): 1878-1880. DOI: 10.3969/j.issn.1671-7171.2007.11.020.Zou T, Xiao B, Peng LX, et al. Eight cases with GM2 gangliosidosis diagnosed by biopsy of brain[J]. J Clin Res, 2007, 24(11): 1878-1880. DOI: 10.3969/j.issn.1671-7171.2007.11.020.
|
10. |
Leal AF, Benincore-Flórez E, Solano-Galarza D, et al. GM2 gangliosidoses: clinical features, pathophysiological aspects, and current therapies[J/OL]. Int J Mol Sci, 2020, 21(7): 6213[2020-08-27]. https://pubmed.ncbi.nlm.nih.gov/32867370/. DOI: 10.3390/ijms21176213.
|
11. |
曲滋玲, 李丽霞, 王晓明, 等. Ⅰ型GM2神经节苷脂沉积症2例[J]. 中国实用儿科杂志, 2000, 15(6): 354. DOI: 10.3969/j.issn.1005-2224.2000.06.039.Qu ZL, Li LX, Wang XM, et al. Type Ⅰ GM2 gangliosidosis 2 cases[J]. Chinese Journal of Practical Pediatrics, 2000, 15(6): 354. DOI: 10.3969/j.issn.1005-2224.2000.06.039.
|
12. |
Yang CF, Wu JY, Tsai FJ. Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity[J/OL]. J Biomed Sci, 2010, 30, 17(1): 79[2010-09-30]. https://pubmed.ncbi.nlm.nih.gov/20920281/. DOI: 10.1186/1423-0127-17-79.
|
13. |
崔守荣. GM1神经节苷脂沉积症1例报告[J]. 临床儿科杂志, 1992, 10(5): 339.Cui SR. GM1 gangliosidosis1case report[J]. J Clin Pediatr, 1992, 10(5): 339.
|
14. |
许念桂, 彭隆祥, 卢伟, 等. GM2神经节苷脂沉积症[J]. 临床神经病学杂志, 2001, 14(6): 342-344. DOI: 10.3969/j.issn.1004-1648.2001.06.007.Xu NG, Peng LX, Lu W, et al. GM2 gangliosidosis[J]. J Clin Neurol, 2001, 14(6): 342-344. DOI: 10.3969/j.issn.1004-1648.2001.06.007.
|
15. |
马秀伟, 蒲利华, 张月华, 等. GM2神经节苷脂沉积的临床特征及诊断[J]. 实用儿科临床杂志, 2008, 23(7): 539-541. DOI: 10.3969/j.issn.1003-515X.2008.07.022.Ma XW, Pu LH, Zhang YH, et al. Clinical characteristics and diagnosis of GM2 gangliosidosis[J]. J Appl Clin Pediatr, 2008, 23(7): 539-541. DOI: 10.3969/j.issn.1003-515X.2008.07.022.
|
16. |
冀浩然, 肖江喜, 李东晓, 等. GM1神经节苷脂累积病6例患儿临床及遗传学研究[J]. 中华实用儿科临床杂志, 2016, 31(20): 1536-1540. DOI: 10.3760/cma.j.issn.2095-428X.2016.20.004.Ji HR, Xiao JX, Li DX, et al. Clinical and molecular genetic analysis of six patients with GM1 gangliosidosis[J]. Chin J Appl Clin Pediat, 2016, 31(20): 1536-1540. DOI: 10.3760/cma.j.issn.2095-428X.2016.20.004.
|
17. |
杨志刚, 王媛, 陈国洪. Tay-Sachs病1例临床及HEXA基因突变分析[J]. 临床儿科杂志, 2019, 37(9): 697-699. DOI: 10.3969/j.issn.1000-3606.2019.09.015.Yang ZG, Wang Y, Chen GH. The clinical feature and HEXA gene mutation analysis of Tay-Sachs disease in a child[J]. J Clin Pediatr, 2019, 37(9): 697-699. DOI: 10.3969/j.issn.1000-3606.2019.09.015.
|
18. |
杨晓苏, 吕冰清, 肖波. 四例GM2神经节苷脂沉积症的临床及病理研究[J]. 中华医学遗传学杂志, 1994, 11(4): 204-206. DOI: 10.3760/cma.j.issn.1003-9406.1994.04.106.Yang XS, Lyu BQ, Xiao B. A clinicopathology study of GM2-gangliosidosis in four cases[J]. Chin J Med Genet, 1994, 11(4): 204-206. DOI: 10.3760/cma.j.issn.1003-9406.1994.04.106.
|
19. |
肖波, 肖岚, 谢光洁, 等. GM_1和GM_2神经节苷脂沉积症[J]. 中华神经科杂志, 1997, 30(1): 23-26. DOI: 10.3760/j.issn:1006-7876.1997.01.010.Xiao B, Xiao L, Xie GJ, et al. GM1 and GM2 gangliosidosis[J]. Chin J Neurol, 1997, 30(1): 23-26. DOI: 10.3760/j.issn:1006-7876.1997.01.010.
|
20. |
兰雪荣, 邱建武, 李华, 等. GM1神经节苷脂沉积病致病基因GLB1新变异c. 101T>C(p. Ile34Thr)的识别和致病性分析[J]. 中国当代儿科杂志, 2019, 21(1): 71-76. DOI: 10.7499/j.issn.1008-8830.2019.01.013.Lan XR, Qiu JB, Li H, et al. Identification and pathogenicity prediction of a novel GLB1 variant c. 101T>C (p. Ile34Thr) in an infant with GM1 gangliosidosis[J]. Chin J Contemp Pediatr, 2019, 21(1): 71-76. DOI: 10.7499/j.issn.1008-8830.2019.01.013.
|
21. |
钱宁, 宋金青, 张维民, 等. 婴儿型GM1神经节苷脂沉积病1例报告[J]. 中国医刊, 2006, 41(4): 39-41. DOI: 10.3969/j.issn.1008-1070.2006.04.015.Qian N, Song JQ, Zhang WM, et al. Infantile GM1 gangliosidosis in a Chinese family[J]. Chinese Journal of Medical, 2006, 41(4): 39-41. DOI: 10.3969/j.issn.1008-1070.2006.04.015.
|
22. |
元芳芳, 柳晓艳, 康天, 等. 康复过程中发现的GM1[J]. 临床合理用药, 2019, 12(2): 158-159. DOI: 10.15887/j.cnki.13-1389/r.2019.05.105.Yuan FF, Liu XY, Kang T, et al. GM1-gangliosidosis case discovered in rehabilitation treatment[J]. Chin J of Clinical Rational Drug Use, 2019, 12(2): 158-159. DOI: 10.15887/j.cnki.13-1389/r.2019.05.105.
|
23. |
吴桐菲, 李溪远, 王峤, 等. 一例婴儿型Sandhoff病家系的基因诊断与产前诊断[J]. 浙江大学学报(医学版), 2013, 42(4): 403-410. DOI: 10.3785/j.issn.1008-9292.2013.04.006.Wu TF, Li XY, Wang Q, et al. HexB gene study and prenatal diagnosis for a family affected by infantile Sandhoff disease[J]. Journal of Zhejiang University(Medical Sciences), 2013, 42(4): 403-410. DOI: 10.3785/j.issn.1008-9292.2013.04.006.
|
24. |
王珏, 林志, 陈琅, 等. 婴儿Sandhoff病临床特点及基因型分析[J]. 临床儿科杂志, 2019, 37(12): 881-884. DOI: 10.3969/j.issn.1000-3606.2019.12.001.Wang Y, Lin Z, Chen L, et al. Clinical characteristics and genotype analysis of infantile Sandhoff disease[J]. J Clin Pediatr, 2019, 37(12): 881-884. DOI: 10.3969/j.issn.1000-3606.2019.12.001.
|
25. |
齐朝月, 张尧, 张为民, 等. 婴儿型GM1-神经节苷脂沉积病5例临床及影像学分析[J]. 临床儿科杂志, 2006, 24(12): 966-969. DOI: 10.3969/j.issn.1000-3606.2006.12.009.Qi CY, Zhang Y, Zhang WM, et al. Clincal and imaging analysis of 5 infants with GM1-gangliosidosis[J]. J Clin Pediatr, 2006, 24(12): 966-969. DOI: 10.3969/j.issn.1000-3606.2006.12.009.
|
26. |
Zhang W, Zeng H, Huang Y, et al. Clinical, biochemical and molecular analysis of five Chinese patients with Sandhoff disease[J]. Metab Brain Dis, 2016, 31(4): 861-867. DOI: 10.1007/s11011-016-9819-9.
|
27. |
Lei HL, Ye J, Qiu WJ, et al. Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis[J]. World J Pediatr, 2012, 8(4): 359-362. DOI: 10.1007/s12519-012-0382-0.
|
28. |
Liu M, Huang D, Wang H, et al. Clinical and molecular characteristics of two chinese children with infantile sandhoff disease and review of the literature[J]. J Mol Neurosci, 2020, 70(4): 481-487. DOI: 10.1007/s12031-019-01409-6.
|
29. |
Feng Y, Huang Y, Zhao X, et al. Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis[J]. Metab Brain Dis, 2018, 33(6): 2051-2057. DOI: 10.1007/s11011-018-0315-2.
|
30. |
Jarnes Utz JR, Kim S, King K, et al. Infantile gangliosidoses: mapping a timeline of clinical changes[J]. Mol Genet Metab, 2017, 121(2): 170-179. DOI: 10.1016/j.ymgme.2017.04.011.
|
31. |
Han X, Wu S, Wang M, et al. Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1[J/OL]. Mol Genet Genomic Med, 2020, 8: e1316[2020-08-08]. https://pubmed.ncbi.nlm.nih.gov/32453490/. DOI: 10.1002/mgg3.1316.
|